Paediatrics Flashcards

Question

Prognosis bronchiolitis

Answer 1

In general, viral bronchiolitis is a mild condition that is self-limiting and resolves within a few days.

Answer 2

Cerebral palsy (CP) is an umbrella term referring to a non-progressive disease of the brain originating during the antenatal, neonatal, or early postnatal period when brain neuronal connections are still evolving. Secondary effects of spasticity on growth may, however, be progressive. There may be additional disturbances of sensation, perception, cognition, communication, and behaviour; neurogenical bladder/bowel; GORD; sialorrhoea (excessive secretion of saliva); feeding and swallowing difficulties; and/or epilepsy. CP is also known as Little's disease.

Answer 3

Antenatal: ``` Prematurity Multiple birth TORCH (toxo, rubella, CMV, Herpes) Factor Va leiden Chorioamniotnitis Teratogen exposure Genetic/metabolic disorders Fetal brain malformation ``` Perinatal: <10% of cases - birth asphyxia due to instrumental delivery, non-vertex presentation, birth trauma, placental abruption, rupture of the uterus or prolonged/obstructed labour, and postmaturity Postnatal: Hyperbilirubinaemia, neonatal sepsis, respiratory distress, early-onset meningitis, intraventricular haemorrhage, and head injuries prior to 3 years (including child abuse and shaken baby syndrome). Around 25% of infants who survive neonatal seizures have CP

Answer 4

Most common cause of childhood disability affecting 2.5 per 1000 individuals in the industrialised world.

Answer 5

``` STRONG Prem Fetal birth asphyxia MultiGest Maternal illness Fetal brain malformation Major birth defects Familial metabolic disorder Neonatal complications Maternal teratogen exposure Low socio ``` WEAK Non-vertex presentation Postmaturity Head injury

Answer 6

All patients present with motor impairment; 80% have spasticity. Other movement disorders observed are dystonia, athetosis, chorea, and ataxia. Other common problems include feeding difficulties, speech impairment, intellectual deficits, urinary incontinence, and a variable sensory/proprioceptive loss. DELAY IN MOTOR/SPEECH?COGNITIVE ``` Retention of primitive reflexes Lack of age appropriate reflexes Spasticity/clonus Toe walking/knee hyperextension Scissoring Crouched gait Contractures Weakness Joint instability Dystonia Chorea Athetosis (changing writhing contorting movements) Ataxia Neonatal hypotonia Scoliosis ```

Answer 7

MRI BRAIN - periventricular leukomalacia, congenital malformation, stroke or haemorrhage, cystic lesions ``` CONSIDER - ie for causes Coagulation studies ?5a Leiden Genetic testing Metabolic screen Xray of joint ```

Answer 8

Management is multidisciplinary and includes occupational, physical, and speech therapy; neurology and neurosurgery; psychiatry; urology; ophthalmology; and orthopaedic, paediatric, dietary, and psychosocial services. Educational and vocational support is also needed. Spasticity can be treated with oral medications, botulinum toxin and other injections; intrathecal baclofen; or selective posterior rhizotomy. Physical, occupational, and speech therapy address motor function, communication, and activities of daily living to prevent deformity and optimise independence and quality of life. ADAPTIVE EQUIPMENT Orthopaedic interventions address contractures, scoliosis, subluxing hips, and extremity deformity.

Answer 9

A child with CP becomes an adult with CP. Except for the most severely involved patients, people with CP survive to senior age status, though some require lifelong help and accommodation. Adults with CP have an increased risk of non-communicable diseases such as stroke, COPD, or cardiac conditions and an increased risk of related deaths. Reflexes and reactions in early infancy that are poor prognostic factors for the development of independent walking include: Retention of asymmetric and symmetric tonic neck reflexes Retention of Moro (startle) reflex Retention of neck righting reflex Presence of lower-extremity extensor thrust response Lack of parachute reaction Lack of foot placement reaction.

Answer 10

``` Feeding difficulties Microcephaly Hydrocephalus Drooling Osteoporosis Hearing impairment Cervical myelopathy Behaviour Aspiration Poor growth Epilepsy Visual impairment Incontinence GORD Sleep disturbance Osteopenia ```

Answer 11

The child is diagnosed with spastic diplegic CP

Answer 12

hemiplegic CP.

Answer 13

Defined by signs and symptoms of abnormal neurological function in the first few days of life in an infant born at term: Difficulty initiating and maintaining respirations, a subnormal level of consciousness, and associated depression of tone, reflexes, and possibly seizures. Encephalopathy is a nonspecific response of the brain to injury which may occur via multiple methods, but is commonly caused by birth asphyxia, leading to cerebral hypoxia.

Answer 14

Overall, the relative incidence of neonatal encephalopathy is estimated to be between 2 and 9 per 1000 term births. 40% to 60% of affected infants die by 2 years old or have severe disabilities. In 2013 it was estimated to have resulted in 644,000 deaths down from 874,000 deaths in 1990.

Answer 15

Reduced level of consciousness Seizures (which peak at 48 hours) Difficulty initiating and maintaining respiration Depression of tone and reflexes

Answer 16

Cord blood gas analysis can be used to determine if there is perinatal hypoxia/asphyxia, which are potential causes of hypoxic-ischemic encephalopathy or cerebral palsy, and give insight into causes of intrapartum fetal distress. Cord blood gas analysis is indicated for high-risk pregnancies, in cases where C-sections occurred due to fetal compromise, if there were abnormal fetal heart rate patterns, Apgar scores of 3 or lower, intrapartum fever, or multifetal gestation. Evidence of brain injury related to the hypoxic-ischemic events that cause neonatal encephalopathy can be seen with brain MRIs, CTs, magnetic resonance spectroscopy imaging or ultrasounds.[5][6]

Answer 17

Currently, neonatal encephalopathy is treated using hypothermia therapy. This has been shown to reduce brain damage, reduce future disability, and improve survival by a 2013 Cochrane review.

Answer 18

HIE is a major predictor of neurodevelopmental disability in term infants. 25 percent have permanent neurological deficits. It can result in developmental delay or periventricular leukomalacia.

Answer 19

Croup, also known as laryngotracheobronchitis, is a common respiratory disease of childhood, characterised by the sudden onset of a seal-like barky cough, often accompanied by stridor, voice hoarseness, and respiratory distress. The symptoms are a result of upper-airway obstruction due to generalised inflammation of the airways, as a result of viral infection (typically parainfluenza virus types 1 or 3).

Answer 20

The illness is due to viral infection (typically parainfluenza virus types 1 or 3). Several other viral pathogens have been recognised, including influenza A and B, adenovirus, respiratory syncytial virus, metapneumovirus, coronavirus HCoV-NL63, and rarely measles. The symptoms result from upper-airway obstruction due to generalised inflammation and oedema of the airways. At the cellular level this progresses to necrosis and shedding of the epithelium. The narrowed subglottic region is responsible for the symptoms of seal-like barky cough, stridor (from increased airflow turbulence), and sternal/intercostal indrawing. If the upper-airway obstruction worsens, respiratory failure can result, leading to asynchronous chest and abdominal wall motion, fatigue, hypoxia, and hypercarbia

Answer 21

STRONG 6 months - 6 years old WEAK Male Prior intubation

Answer 22

Croup is a frequent cause of acute respiratory distress in young children. Typically, it affects those between 6 months and 3 years of age, peaking in the second year of life. It has been reported to occur in infants younger than 6 months, in adolescents, and, more rarely, in adults. M>F A peak in clinical presentations is correlated with parainfluenza virus epidemics. These peaks typically occur in alternating years and result in a 50 % increase in the number of children admitted with croup.

Answer 23

``` COMMON Symptoms increases with agititation Seal-like bark Peak late autumn [SEP-DEC] Prodromal symptoms Abrupt onset symptoms Symptoms worse at night Hoarse voice ``` ``` UNCOMMON Resp distress Persistent agitiation Lethargy synchronous chest wall / abdominal movement Fatigue Hypoxia - cyanosis/pallor Dec consciousness ```

Answer 24

CLINICAL DIAG Could do Xray lateral neck - see STEEPLE sign BUT DON'T NORMALLY DO!!

Answer 25

Orally administered corticosteroids are the mainstay for all levels of severity, combined with nebulised epinephrine (adrenaline) in moderate to severe croup to provide temporary relief of the symptoms of upper-airway obstruction. NO STRIDOR: Dexamethasone: 0.15 to 0.6 mg/kg orally as a single dose Can use IM dex, or inhaled budesonide (2mg) SUPPLEMENTAL O2 IF IMPENDING RESP FAILURE INTUBATE IF NEEDED

Answer 26

Mild-Mod = reasonable outlook but may appear frightening Severe: Since combination treatment with dexamethasone and nebulised epinephrine (adrenaline) became standard care, prognosis for severe croup has been excellent. 1-3% resp failure

Answer 27

Bacterial Tracheitis | Pneumonia

Answer 28

Cystic fibrosis (CF) is a severely life-shortening genetic disease resulting from abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel found in cells lining the lungs, intestines, pancreatic ducts, sweat glands, and reproductive organs. There are over 1500 known disease-causing mutations that interrupt various stages of CFTR synthesis and function. The most common clinical manifestations are pancreatic dysfunction, resulting in calorie malabsorption; and lung disease, resulting from a cycle of mucus retention, infection, and inflammation.

Answer 29

There are about 10,400 cases in the UK, 30,000 cases in the US, and 70,000 worldwide. The incidence among white people is about 1/3000; the incidence is lower among people of African, Hispanic, and Asian descent. It is most common among people of European descent. One study suggests that the incidence may be decreasing since the institution of newborn screening. Lung disease is the most common cause of morbidity and mortality.

Answer 30

FHx Known carrier parent Ethnicity (white) Approximately 1 in 28 white people is a carrier of a CFTR mutation

Answer 31

CF is a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), an anion channel found in the apical membrane of epithelial cells. Patients may be either homozygous or heterozygous with respect to CFTR mutations. Carriers of one CFTR mutation and one normal CFTR allele do not demonstrate disease in most cases. Pathophysiology: Mutations in CFTR result in abnormal salt transport by epithelial cells, resulting in thick, sticky secretions. In the pancreas, this leads to blockage of exocrine ducts, early activation of pancreatic enzymes, and eventual autodestruction of the exocrine pancreas. Therefore, most patients require supplemental pancreatic enzymes. In the intestine, bulky stools can lead to intestinal blockage. In the respiratory system, the absence of CFTR function results in mucus retention, chronic infection, and inflammation that eventuate in the destruction of lung tissue

Answer 32

COMMON ``` RFs +ve Newborn screen Failure to pass meconium - May have meconium ileus Failure to thrive Voracious appetite Wet-sounding cough Recurrent lower airway infection Chronic sinusitis Genital abnormalities in males -> lack vas deferens Malabsorptive stool with steatorrhoea Digital clubbing GORD ``` ``` UNCOMMON Haemoptysis Wheeze Increased AP diameter chest Hx pancreatitis/appendicitis ```

Answer 33

Sweat test - positive (sweat chloride >60 mmol/L [≥60 mEq/L]) [NB 30-60 = must do more Ix] Immunoreactive trypsinogen test - +ve but must be followed up with an additional test Genetic testing - presence of 2 disease-causing mutations

Answer 34

GENERAL ONGOING Rx: Chest physio, PEEP, Oscillatory devices: airway clearance Salbutamol bronchodilator Mucolytic: IE dornase alfa + Hypertonic Saline IF PSEUDOMONAS COLONISED : Tobramycin PROPHYLAXIS: Azithromycin 250mg TD IBUPROFEN SLOWS LUNG DECLINE IN >6YOs CFTR modulators: Ivacaftor: F508del mutation. Lumacaftor/ivacaftor OR Tezacaftor/ivacaftor : F508del mutation. Ivacaftor increases CFTR activity Lumacaftor moves CFTR to lumen [apical membrane] LUNG TRANSPLANTATION _____________________ If meconium ileus at birth: Lactulose -> surgery + NG decompression in the meantime _____________________ GI DISEASE Pancreatic enzyme replacement (pancreatin) GORD Rx Vitamin replacement ursodeoxycholic acid if LIVER involvement

Answer 35

This is a genetic disease for which there is no cure. However, the outlook for patients with this condition has greatly improved. In the past 50 years, the mean age of survival has risen from infancy/school age to almost 40 years old.

Answer 36

``` Distal intestinal OB Pneumo/haemothorax Intussusception Chronic resp acidosis Delayed puberty Acute resp failure Cor pulmonale DM metlitus Osteoporosis Depression/anxiety Chronic sinusitis Failure to thrive Nasal polyps Rectal prolapse ```

Answer 37

The term developmental dysplasia of the hip (DDH) represents a spectrum of conditions affecting the proximal femur and acetabulum, ranging from acetabular immaturity to hip subluxation and frank hip dislocation. In true DDH, the femoral head has a persistently abnormal anatomical relationship with the pelvic acetabulum, which leads to abnormal bony development that can ultimately result in premature arthritis and significant disability. This is distinct from transient dysplasia, which represents acetabular immaturity in which the anatomical relationship stabilises and normalises over a period of weeks to months. There is a high rate of spontaneous resolution of hips identified as abnormal by both clinical examination and ultrasound in the neonatal period. Frank dislocations and persistently abnormal examinations should be referred to a paediatric orthopaedist.

Answer 38

A recent UK review of neonatal screening for DDH suggested that the incidence of DDH is generally given as 1-2 per 1000 live births. The reported prevalence of DDH has increased significantly since the advent of clinical and sonographic screening, suggesting the possibility of overdiagnosis. DDH is more common in girls, with a 4-fold increased risk compared with boys. W>B The condition is also more common in infants who are breech at or near-term delivery.

Answer 39

Although the aetiology of DDH has not been rigorously evaluated, it is generally believed that genetic, hormonal, and/or mechanical factors play a role. Observational studies have shown that infants with a family history of DDH have an increased relative risk of the condition; however, most cases occur in children with no family history. It is believed that those with DDH have increased ligamentous laxity, and that this is most pronounced at the time of delivery. Intrauterine confinement and positioning may play a role given that infants born breech, first-born infants, and large infants have been shown to have a higher relative risk of the condition.

Answer 40

STRONG Female FHx Breech WEAK Postural deformity eg congenital muscular torticollis Restricted intraauterine space - oligohydramnios, macrosomia, multiple gestation

Answer 41

ORTOLANI TEST The hip is flexed to 90° and abducted, with the examiner's fingers are placed laterally over the greater trochanter or hip joint. The examiner then uses anterior pressure over the trochanter in an attempt to identify a dislocated hip that is relocatable. Should refer to a paediatric orthopaedist if frank instability is appreciated. BARLOW TEST The hip is flexed to 90° and adducted, the examiner's hand is placed on the knee, and posterior pressure is placed through the hip in an attempt to identify dislocatable hips. Should refer to a paediatric orthopaedist if frank instability is appreciated. Limited hip abduction UNCOMMON Abnormal positioning of leg or delayed crawling Toe walking

Answer 42

<6 months: US hips - subluxation on provocative testing; abnormal relationship between femoral head and acetabulum >6 months: Beyond 6 months of age, hip radiographs are typically preferred over ultrasound. - abnormal relationship between femoral head and acetabulum (assessed by acetabular index, Shenton's line, ossification of femoral head)

Answer 43

Hip dysplasia/subluxation 1) - MILD DYSPLASIA OBSERVE WITH MONTHLY SCANS AS MANY IMPROVE - SUBLUX for 3w IN A NEONATE = warrants Rx as dislocated hip 2) If dysplasia persists or worsens, consideration is given to use of a Pavlik harness to enhance optimum hip development. DISLOCATION: 1) CLOSED reduction with SPICA casting 2) OPEN reduction with SPICA casting Open reduction is where the fracture fragments are exposed surgically by dissecting the tissues Closed reduction is the manipulation of the bone fragments without surgical exposure of the fragments. >6YO - will need Salvage osteotomies

Answer 44

Prognosis is dependent upon the age at presentation, the extent of treatment needed, and the occurrence of complications. The success of closed or open reduction of a hip dislocation depends upon the remodelling potential of a child's femoral head and acetabulum to achieve an adequately spherical shape with adequate coverage. This remodelling potential is more reliable in younger children, and within the first 12 to 18 months after reduction is achieved. The remodelling potential remains but is likely reduced during the subsequent years of growth. For patients presenting as infants and using the Pavlik harness, success rates approach 90% and complication rates are considered low. Rates of avascular necrosis range between 1% to 3% for the majority of hips treated. Femoral nerve palsy has an incidence of 2.5% and typically is transient, resolving once the harness is removed

Answer 45

``` Rx related avascular necrosis Residual dysplasia Degenerative joint disease Pavlik Harness disease Limb length inequality Knee valgus Back pain Rx related nerve palsy ```

Answer 46

AKA no cortisol OR aldosterone Congenital adrenal hyperplasia (CAH) is a family of inherited enzyme deficiencies that impair normal corticosteroid synthesis by the adrenal cortex. The most common enzyme deficiency is 21-hydroxylase deficiency, which accounts for over 90% of cases. CAH due to 21-hydroxylase deficiency can be classified as either classical (simple virilising or salt-wasting types) or non-classical. CAH is suspected in females who are virilised at birth, who become virilised postnatally, or who have precocious puberty or adrenarche. Males with virilisation in childhood and infants of either sex with a salt-wasting crisis in the first 4 weeks of life are likely to be affected with CAH. Serum concentrations of delta-androstenedione and progesterone are increased in males and females with 21-hydroxylase-deficient CAH. Serum concentrations of testosterone and adrenal androgen precursors are increased in affected females and prepubertal males.

Answer 47

Screening studies indicate a worldwide incidence of classical 21-hydroxylase-deficient CAH as 1 in 13,000 to 1 in 54,000 live births. The prevalence frequency of non-classical 21-hydroxylase-deficient CAH is considerably higher, at 1 in 1000, in white populations, with an even higher frequency among selected ethnic groups - most notably, Ashkenazi Jews.

Answer 48

CAH is an autosomal recessive disorder, and the gene encoding 21-hydroxylase enzyme, CYP21A2, is mapped to the short arm of chromosome 6 (6p21.3). To date, more than 100 mutations have been described, including point mutations, small deletions, small insertions, and complex rearrangements of the gene. The production of cortisol occurs in the zona fasciculata of the adrenal cortex through 5 enzymatic steps.

Answer 49

Genetic predisposition

Answer 50

COMMON ``` WL Failure to thrive Vomiting Hypotension Ambiguous genitalia - Prader Score: degree of virilisation of the external genitalia of females as proposed by Prader. Hyperpigmentation Poor feeding Irregular menses Infertility Male pattern baldness in females Short stature Precocious puberty PCOS Hirstuism ``` UNCOMMON Severe cystic acne

Answer 51

serum 17-hydroxyprogesterone - HIGH if 21OH classical serum 11-deoxycortisol - HIGH if 11-beta-hydroxylase deficiency serum chemistry - hyponatraemic, hyperkalaemic, metabolic acidosis; azotaemia microfilter paper radioimmunoassay for 17-hydroxyprogesterone - H if 21-OH def Genetic analysis - mutation and autosomal recessive inheritance pattern ACTH stimulation testing Renin high in salt wasting Pelvic USS not usually indicated but does show enlarged glands with classical CAH

Answer 52

Mother of potentially affected foetus: antenatal Dexamethasone DURING ANY ACUTE STRESS EG SURGERY / ILLNESS ECT MUST GIVE ADDITIONAL glucocorticoid NORMAL DAY-DAY Hydrocortison 10-15mg/square meter body SALT WASTING FORM May need fludrocortisone + NaCl IF GROWTH AFFECTED: Somatotropin Genital surgery

Answer 53

Improved care has resulted in a good prognosis and normal life expectancy. The main concerns in children are the preservation of fertility and healthy sexual function, and maintenance of general wellbeing. This includes bone health and the assessment and management of cardiovascular disease risk. Changes in childhood play behaviour correlate with reduced female gender satisfaction and reduced heterosexual interest in adulthood. The rates of bisexual and homosexual orientation were increased in women with all forms of 21-hydroxylase-deficient CAH. They were found to correlate with the degree of antenatal androgenisation. Affected adult females are more likely to have gender dysphoria, and experience less heterosexual interest and reduced satisfaction with the assignment to the female sex. Males affected with CAH do not show a general alteration in childhood play behaviour, core gender identity, and sexual orientation.

Answer 54

Adrenal crisis Testicular adrenal rests Short stature

Answer 55

Congenital adrenal hyperplasia Under-virilisation of newborn males can be seen in 3-beta-hydroxysteroid dehydrogenase deficiency and 17-alpha-hydroxylase deficiency.

Answer 56

Congenital adrenal hyperplasia

Answer 57

The American Academy of Pediatrics announced a standard definition of febrile seizures as a seizure occurring in febrile children between the ages of 6 and 60 months who do not have an intracranial infection, metabolic disturbance, or history of afebrile seizures. The first occurrence is usually before 3 years of age, but is infrequent in children younger than 6 months. Febrile seizures have a peak incidence at 18 months of age and are most common between 6 months and 5 years. Most febrile seizures are simple with approximately 20% to 30% being complex. Febrile seizures are usually self-limiting; an increased risk of developing epilepsy is low except in a small number of cases. Most febrile seizures resolve spontaneously and quickly, and do not require acute or long-term anticonvulsant treatment.

Answer 58

2-5% cumulative incidence 1.6M:1F

Answer 59

Viral infections triggering fever are most common, with bacteraemia as an infrequent cause. (HHV)-6 infection Influenza A virus is the most common cause in Asian countries Febrile seizures are dependent upon a threshold temperature and this seems to vary from one individual to another. The American Academy of Pediatrics considers fever to be any increase of the body’s external temperature over 38ºC

Answer 60

``` STRONG Fever Young age FHx febrile seizure Viral/bacterial infection outside the central nervous system ``` ``` WEAK Male Vaccinations Antenatal exposure to nicotine Iron deficiency Complications of pregnancy, labour + delivery ```

Answer 61

``` RFs Febrile illness >38.3 Seizure: - LOC - Generalised tonic-clonic - Consciousness usually recovered quickly within 30mins - No sequelae - Less commonly, some seizures are prolonged, focal or multiple, and recovery of consciousness is delayed. ``` NORMAL post-ictal exam

Answer 62

Diagnosis is clinical, however alternative causes must be ruled out: ``` Lumbar puncture: normal cells, protein, glucose Viral studies: may be +ve Blood culture: may be +ve FBC Serum glucose: usually N ```

Answer 63

ANTIPYRETIC - paracetamol 10-15mg/kg 4-6hrly - ibuprofen 5-10 mg/kg orally every 6-8 hours Anticonvulsant: diazepam, midazolam, lorazepam, fosphenytoin

Answer 64

Prognosis is generally favourable. Febrile seizures recur in approximately 30% of children during subsequent febrile illnesses. Most recurrences occur within 2 years. The risk of non-febrile seizures and epilepsy developing after simple febrile seizures is 5% or less. However, after complex febrile seizures, the risk of developing epilepsy is 10% to 20%.

Answer 65

``` Todd's paralysis (temporary hemiparesis Non-febrile seizure Epilepsy Focal epilepsy Mesial Temporal sclerosis Behaviour and cognitive disorders ```

Answer 66

Febrile seizure

Answer 67

Febrile seizure

Answer 68

Febrile seizure

Answer 69

Viral gastroenteritis is an infection of the GI tract by a virus, usually rotavirus. It is usually self-limiting, but if untreated may result in morbidity and mortality secondary to dehydration, electrolyte imbalance, and metabolic acidosis. Associated with substantial morbidity in developed countries. Continues to be a cause of significant mortality in developing countries. Presents with vomiting and diarrhoea (with or without fever, nausea, or abdominal pain). Dehydration, which may be associated with electrolyte imbalance and metabolic acidosis, is the most frequent and dangerous complication. Oral rehydration therapy is the mainstay of treatment. Self-limiting disease with excellent prognosis if correctly treated.

Answer 70

Viruses account for approximately 70% to 87% of episodes of acute gastroenteritis in children, with Rotavirus being the most common identifiable cause. Other viral pathogens include caliciviruses, astroviruses, and adenoviruses. Other viruses such as coronaviruses, parvoviruses, and picobirnaviruses have also been linked to human gastroenteritis.

Answer 71

Worldwide, 3 billion to 5 billion cases of acute gastroenteritis occur each year in children <5 years, resulting in 1.5 million to 2.5 million deaths. The average child <5 years of age experiences 2.2 diarrhoeal episodes per year in developed countries, and this rate in developing countries is significantly higher. Viral gastroenteritis is spread mainly by the faecal-oral route; this may occur through contaminated hands, utensils, food, and drink. Gastroenteritis is associated with poverty and poor environmental or personal hygiene. Spread among family members is common, and outbreaks may occur in day-care centres and hospitals. Several epidemiological studies have suggested that rotavirus infection can be transmitted by respiratory droplets. In temperate regions, rotavirus gastroenteritis has a marked seasonality, peaking during the cold months.

Answer 72

``` Age <5 Poor personal hygiene Exposure Day-care/nursery Winter months Poverty Lack of immunisation Lack of breast feeding Immunodeficiency ```

Answer 73

``` COMMON RFs Vomiting Non-bloody diarrhoea Hyperactive bowel sounds Low grade fever Abdominal pain Evidence of dehydration Decreased bodyweight Non-distended abdomen Abdominal tenderness ``` UNCOMMON Mucus in stool

Answer 74

CLINICAL DIAGNOSIS Measurements of serum electrolytes, urea, and creatinine are usually not necessary to assess children with acute gastroenteritis, as the results do not change the therapeutic strategy. ``` CONSIDER U+E - N unless severe deydration FBC - if worried re sepsis Stool culture - Negative Enzyme immunoassay for detection of viral antigen - CAN detect offending pathogen but is pointless rly ```

Answer 75

Oral rehydration solutions Ondansetron - if vomiting prevents ORT IV fluids

Answer 76

With proper treatment, the prognosis is excellent. Viral gastroenteritis is self-limited; the typical episode lasts 3 to 7 days. Prolonged diarrhoea may indicate secondary disaccharidase deficiency. Worldwide, acute gastroenteritis accounts for 1.5 to 2.5 million deaths annually. Most deaths occur in developing countries.

Answer 77

``` Volume depletion U+E imbalance Metabolic acidosis - Often complicates acute diarrhoea, as a result of faecal losses of bicarbonate and impaired renal excretion of hydrogen ions. Hypoglycaemia Viral antigenaemia Secondary bacteraemia Afebrile seizure Shock ```

Answer 78

Viral gasteroenteritis

Answer 79

A congenital condition characterised by partial or complete colonic functional obstruction associated with the absence of ganglion cells. Because of the aganglionosis, the lumen is tonically contracted, causing a functional obstruction. The aganglionic portion of the colon is always located distally, but the length of the segment varies. This determines the varied manifestations of the disease. The vast majority of patients present in the newborn period up to 1 year of age. Diagnosis later in life occurs rarely. Presents with vomiting, abdominal distension, and/or enterocolitis. May be associated with Down's syndrome and multiple endocrine neoplasia type IIA. Definitive diagnosis is with a rectal biopsy. Initial treatment is bowel irrigation, followed by a definitive surgical treatment, either transanally alone or with laparoscopic assistance. Rarely, colostomy or ileostomy is required to manage severe enterocolitis, with definitive pull-through delayed. Irrigations often do not work for patients with total colonic Hirschsprung's disease. Total colectomy with ileo-procto anastomosis and a protective ileostomy is recommended at the time of diagnosis. The ileostomy is closed after the child is toilet trained for urine and can accept rectal irrigations.

Answer 80

There have been new developments in determining associated genetic defects. Hirschsprung's disease is thought to be due to a deletion in the long arm of chromosome 10. The location of this mutation is between 10q11.2 and 10q21.22. This deletion seems to overlap the region of the RET (rearranged during transfection) proto-oncogene. Multiple endocrine neoplasia type IIA is also associated with a deletion of this proto-oncogene. The absence of ganglion cells and the presence of hypertrophic nerves, as well as an increase in the enzyme acetylcholinesterase, are the keys to pathological diagnosis of the dysfunctional bowel segment.

Answer 81

STRONG Downs syndrome WEAK MEN2A Male Gene mutations 10/21

Answer 82

1 in 5k births White > M>F Approximately 5% to 32% of all individuals affected with the disease have an associated congenital anomaly.

Answer 83

``` COMMON Vomiting Explosive passage of liquid and foul stools Abdo distension Delayed passageof meconium Fever Failure to thrive ``` UNCOMMON Septic shock

Answer 84

Plain Xray - air-fluid levels present; dilated colon Contrast enema - contracted distal bowel and dilated proximal bowel, with demonstration of the location of the transition zone in between Rectal biopsy - absence of ganglion cells and presence of thickened (i.e., >40 microns), non-myelinated nerves; increased activity of acetylcholinesterase; absence of nicotinamide adenine dinucleotide phosphate diaphorase-containing neurons; increase in the amount of acetylcholinesterase-containing nerve bundles

Answer 85

Bowel irrigation IV fluids/ABx Decompression by colostomy or ileostomy Definitive surgery Total colonic aganglionosis -> cannot have bowel irrigation: only ileostomy

Answer 86

``` Ischaemic enterocolitis Post-op enteroC Post op constipation/diarrhoea Duhamel rectal pouch Faecal incontinence post surgery Pseudo-incontinence Fistula/pelvic abscess ```

Answer 87

The outcome for typical (rectosigmoid) disease is good. Enterocolitis can occur postoperatively but usually disappears after the first year of life. Soiling is usually treatable with the correct medical management. True faecal incontinence is avoidable with proper technique preserving the sphincters and anal canal. Patients who have had pull-through and suffer from incapacity to empty the colon may have a retained piece of colon with transition zone, or a twisted pull-through.

Answer 88

Hirschsprungs

Answer 89

Hirschsprungs

Answer 90

Hirschsprungs

Answer 91

Henoch-Schonlein purpura (HSP) is the most common vasculitis of childhood and affects the small vessels. HSP is characterised by the classic tetrad of rash, abdominal pain, arthritis/arthralgia, and glomerulonephritis. Most common vasculitis of childhood. Rash of palpable purpura is present in all cases. Most cases resolve with symptomatic treatment. Complications can occur, with renal failure being the most common cause of death.

Answer 92

``` Normally 3-15yo 50% of cases = before 3YO 22.1 cases per 100,000 population Asian>W>B HSP can follow a URTI, and as a result it mainly occurs in the autumn, winter, and spring. ```

Answer 93

The underlying cause of HSP remains unknown. It is an immune-mediated vasculitis, with a variety of infectious and chemical triggers having been proposed as a cause. Many cases of HSP occur after a URTI, especially streptococcal infections. HSP is a small-vessel leukocytoclastic vasculitis characterised by the tissue deposition of IgA-containing immune complexes within affected organs. Skin biopsies of lesions show neutrophils and monocytes as the predominant cell types. Fluorescence microscopy shows IgA, C3, and fibrin deposition within the small vessels. The pathogenesis of this disease is similar to that of IgA nephropathy.

Answer 94

M 3-15 Hx URTI Some medicines: (e.g., penicillin, cefaclor, minocycline, hydralazine, and phenytoin)

Answer 95

COMMON RFs Arthralgias Abdominal pain Rash - erythematous, non-blanching, usually lower extremities Sx renal disease: can vary from mild (i.e., asymptomatic haematuria and/or proteinuria) to severe (i.e., rapidly progressive nephritis, nephrotic syndrome, and renal failure). It can produce microscopic haematuria, proteinuria, and RBC casts. ``` UNCOMMON Headaches Seizures Pulmonary haemorrhage Scrotal pain/swelling ```

Answer 96

Urinlaysis: assess renal involvement - may show RBCs, proteinuria, or casts coagulation studies - N

Answer 97

No nephrotic syndrome: Analgesics - ibu/para Prednisolone if severe oedema / pain IF NEPHROTIC RANGE PROTEIN - Corticosteroid + immunosuppressant (azathioprine/ciclophosphamide) May need plasmapheresis/renal dialysis/transplantation if very severe

Answer 98

The outcome for patients with HSP is usually excellent. Complete recovery occurs in 94% of children and 89% of adults. One third of patients may have a recurrence within 4 months, but the subsequent episode is generally milder; recurrences are more common in patients with nephritis.

Answer 99

``` Pulmonary haemorrhage GI haemorrhage/intussusception Renal impairment ESRD CNS complications Uveitis ```

Answer 100

Henoch-Schonlein purpura

Answer 101

Kawasaki disease (KD) is an acute, febrile, self-limiting, systemic vasculitis of unknown origin that almost exclusively affects young children. In an immunogenetically pre-disposed host, one or more infectious agents may play a role in triggering the clinical manifestations of the disease. Clinically, it is characterised by fever, polymorphic rash, conjunctivitis, mucosal erythema with strawberry tongue, induration of the hands and feet, and unilateral cervical lymphadenopathy. Morbidity and mortality depend on coronary aneurysms that develop in 20% to 25% of untreated patients. KD is the leading cause of acquired heart disease in children under 5 years of age in the US and other developed countries. Acute febrile illness lasting 5 or more days. Typical signs include fever, polymorphic rash, injected eyes, and mucosal erythema with strawberry tongue. Swelling and erythema of the hands and feet occur in the acute stage, followed by desquamation in the second week. Unilateral non-purulent cervical lymphadenopathy is present in about 40% of cases. Coronary aneurysms develop in 20% to 25% of untreated patients. Standard treatment includes intravenous immunoglobulin and/or aspirin. In resistant cases, corticosteroids or a tumour necrosis factor (TNF)-alpha inhibitor may be necessary.

Answer 102

``` 13-24month usually Rare in 1st 6month 80% occur before 5 Asian > black > white origin M>F ```

Answer 103

The cause of KD remains unknown. However, the following observations suggest that this disease is triggered by an unknown infectious agent. Clinical picture: KD overlaps with infectious diseases such as scarlet fever and adenoviral infection. Seasonal occurrence: in the US and other geographic areas, the peak occurrence of KD is in the winter/spring, similar to that seen in numerous viral diseases. Epidemics with clear epicentre: temporal clusters have been reported in the US, Japan, and worldwide. Moreover, in Japan, outbreaks have been observed to start in one area and spread throughout the country over a period of 3 months. Age at onset: peak incidence is in the toddler age group; 80% of the cases are in infants under 5 years old, and the rarity of cases under 3 months of age suggests protective transplacental antibodies

Answer 104

Asian ancestry 3month - 4yo Male

Answer 105

``` COMMON Polymorphous rash - diffuse, maculopapular erythematous rash. Occasionally scarlatiniform- or erythema multiforme-type rash with target lesions on the arm and trunk. Groin erythema or desquamation and fine pustules over extensor surfaces of extremities can occur. Conjunctival injection - aka RED eyes Mucositis - dry, erythematous, fissured lips that bleed easily, erythema of the oral and pharyngeal mucosa, and strawberry tongue with prominent papillae and erythema Skin changes on extremities Unilateral enlarged cervical LNs Coronary artery aneurysms Fever + EXTREME irritability ``` ``` UNCOMMON Pericarditis with effusion Congestive Heart Failure Joint pain/oedema Neurological manifestations: aseptic meningitis/facial nerve palsy ``` VERY RARE GI manifestations Urological manifestations Other derm manifestations

Answer 106

FBC - Normochromic Anaemia, leukocytosis, thrombocytosis (plts most important diagnostically) ESR - Raised CRP - raised Echo - coronary artery dilatations or aneurysms ``` CONSIDER Urinalysis - sterile pyruria LFTs - raised LFTS, low alb ECG - rule out MI CxR - may see cardiomegaly LP - if Sx meningitis (may have aseptic men) ```

Answer 107

``` 1st: IVIG + High dose aspirin 25mg dose QTD 2nd: Prednisolone/methylpred + aspirin 2nd: Infliximab 5mg/kg single dose + aspirin 3rd: Ciclosporin + aspirin ``` RISK FOR MI Low risk - CV assessment High risk - Aspirin + LMWH + adjunct: clopidogrel + BB

Answer 108

Kawasaki disease (KD) is an acute, self-limiting illness. The immediate outcome has improved dramatically, with a decrease in the frequency of coronary artery aneurysms to less than 3% following the introduction of intravenous immunoglobulin (IVIG) therapy. Overall, the mortality rate is less than 0.5%. However, in untreated patients it is associated with significant morbidity and mortality. Delayed diagnosis, particularly of incomplete KD, and KD in very young children, poses a challenge as these patients have a high risk of aneurysms. The long-term prognosis of children with giant aneurysms remains a concern due to their associated risk of ischaemia or thrombosis. Management of such patients includes thromboprophylaxis and careful identification of evolving stenoses. Selected patients may need invasive revascularisation procedures.

Answer 109

``` Myocarditis Pericarditis Coronary aneurysms Valvulitis Arthritis Mild hepatic dys Gallbladder disease Pneumonitis Aseptic meningitis Coronary thrombosis ACS Systemic artery aneurysms Extremity gangrene Bowel ischaemia and necrosis ```

Answer 110

Kawaski Disease

Answer 111

Kawaski Disease

Answer 112

Intussusception is a common cause of intestinal obstruction in young children and is defined as the prolapse of one part of intestine into the lumen of the adjoining distal part. This condition most often occurs in the ileocaecal region. The lead point of the intussusception is most often an enlarged lymph node (Peyer’s patch) in the terminal ileum. Occasionally, the lead point is an anatomic abnormality of the intestine (a 'pathological lead point'). Conditions resulting in pathological lead points include luminal polyps, malignant tumours (including lymphoma), and benign mass lesions such as lipomata, Meckel's diverticulum, Henoch-Schonlein purpura, and enteric duplication cysts. Intussusception is clinically important. It results in venous obstruction and bowel-wall oedema that can progress to bowel necrosis, perforation, and, rarely, death. Most commonly occurs in infants aged between 3 and 12 months, with a peak at the age of approximately 9 months. Presentation often includes colicky abdominal pain, flexing of the legs, fever, lethargy, and vomiting, with blood in the stool in some cases. When there is clinical suspicion, imaging has a valuable role. Plain abdominal x-ray may reveal an intestinal obstruction and paucity of wind in the right lower quadrant. The presence or absence of free gas will influence subsequent management; abdominal ultrasound undertaken by an experienced radiologist will usually establish the diagnosis; contrast enema (most often air but may be liquid contrast) is the most specific and sensitive test for diagnosis. As well as being used therapeutically, it can also be used diagnostically where doubt remains. The pathological location is typically ileocaecal. Treatment involves reduction by contrast enema. Air is likely to be more effective and safer than liquid; in cases where this is unsuccessful or where peritonitis exits, surgery is required. Open reduction is then performed in uncomplicated cases, and intestinal resection for cases complicated by bowel necrosis and perforation.

Answer 113

18-56 per 100k 5-7m normally 75% <12

Answer 114

The aetiology of most cases of intussusception is unclear but is likely to be related to hyperplasia of Peyer's patches and lymphoid tissue in the intestinal wall resulting from antecedent viral infection. These enlarged lymph nodes have been suggested as the lead point in idiopathic intussusception. This review will focus on idiopathic intussusception in infants. Pathological lead points are anatomical abnormalities of the intestine, such as luminal polyps, malignant tumours (including lymphoma), and benign mass lesions (e.g., lipomata, Meckel's diverticulum, Henoch-Schonlein purpura, and enteric duplication cysts). Intussusception is the telescoping of one portion of the intestine (the intussusceptum) into the lumen of the intestine immediately distal to it (the intussuscipiens). The mesentery is dragged alongside the proximal bowel wall into the distal lumen resulting in obstruction of venous return. Oedema, mucosal bleeding, and increased pressure result. If arterial flow becomes compromised, ischaemia, necrosis, and perforation can occur.

Answer 115

STRONG Male 6-12m WEAK Antecedent viral illness 1st gen rotavirus vaccination

Answer 116

COMMON RFs Male 6-12m Vomiting (may be bilious/non bilious) Lethargy / irritability IN BETWEEN WAVES of pain ( can be the only Sx) Blood per rectum -> "redcurrent jelly stool" Pallor Palpable abdominal mass (usually RUQ/EPIgastrum) UNCOMMON Hypovolaemic shock Poor feeding Abdo distention

Answer 117

Abdo plain Xray (always initial investigation if perforation or obstruction is suspected) - may appear normal; visible abdominal mass; abnormal wind pattern; air-fluid levels; dilated bowel loops; empty right lower quadrant; 'target sign'; free intra-abdominal air (may be indicative of intestinal perforation as a complication of intussusception) USS (higher sensitivitt/spec) - tissue mass; 'target sign'; doughnut sign; multiple concentric ring sign; crescent-in-doughnut sign; pseudokidney sign; sandwich sign; abnormal Doppler flow Can do diagnostic enema - meniscus sign; coiled spring sign

Answer 118

STABLE Fluid resus and contrast enema reduction BS ABx - ie gentamycin/vanc/piptaz UNSTABLE - shock/perforation/peritonitis/bowel wall necrosis Fluid resus + urgent surgical reduction

Answer 119

The recurrence rate of intussusception after contrast enema (air or contrast reagent) reduction is approximately 10% and does not significantly differ based on the type of contrast reduction performed. Surgical reduction has been associated with a recurrence rate of 2% to 5%. Mortality in intussusception is related to delay in presentation, septic shock, and inadequate fluid resuscitation.

Answer 120

Intestinal ischaemia, necrosis and perforation

Answer 121

intussusception

Answer 122

intussusception

Answer 123

Laryngomalacia (LM) is a congenital abnormality that predisposes to dynamic supraglottic collapse during the inspiratory phase of respiration, resulting in intermittent upper airway obstruction and stridor. LM is the most common source of stridor in infants and the commonest congenital laryngeal anomaly. Congenital abnormality of the larynx cartilage that predisposes to dynamic supraglottic collapse during the inspiratory phase of respiration, resulting in intermittent upper airway obstruction and stridor. Most common laryngeal anomaly and most frequent congenital cause of stridor in infants. Natural history is presentation in early infancy with maximal symptoms at 6 to 8 months before gradual improvement and spontaneous resolution within 12 to 24 months. Presents with inspiratory stridor. Some patients have upper airway obstruction with associated feeding difficulties. Frequently associated with GORD. Diagnosis is made by the clinical features and with flexible laryngeal endoscopy. Direct rigid laryngoscopy under anaesthesia may also be required. Possibility of additional airway lesions should be considered. Treatment depends on disease severity; observation alone (with treatment of associated GORD) is appropriate for most cases. Endoscopic supraglottoplasty may be required for more severe disease. Tracheostomy and pressure-assisted ventilation are other possible therapies.

Answer 124

60-70% of congenital laryneal anomalies M:F 2:1 Usually presents in first few weeks of life

Answer 125

The aetiology of laryngomalacia (LM) is still not fully understood, although several theories have been proposed. - Immaturity of cartilage - Neuromuscular incoordination - Abnormalities in supraglottic anatomy

Answer 126

``` STONG GORD Neurological abnormalities Laryngeal anatomical abnormalities Male Genetic syndrome disorder ```

Answer 127

Onset within two weeks of birth Stridor Resp distress - Clinical features include nasal flaring; suprasternal, intercostal, or subcostal recession; abdominal respiration; and tracheal tug. Sternal recession and/or pectus excavatum may be present. Resolution of symptoms by age 2 NORMAL CRY - This serves to differentiate from other laryngeal conditions where abnormal or absent cry is a feature (vocal cord palsy, laryngeal web). Feeding difficulties UNCOMMON WL Hypotonia Dysmorphic features

Answer 128

Flexible laryngoscopy - dynamic collapse of the supraglottic tissues on inspiration; visible narrowing and obstruction of the supraglottic airway; anatomical anomalies; evidence of GORD

Answer 129

Observation (typically resolves by 2yo) GORD Rx - ranitidine/omeprazole BIPAP can be used SEVERE disease: SURGICAL Rx - supraglottoplasty

Answer 130

``` GORD Life threatening airway OB Failure to thrive Aspiration Tracheostomy-related comps Pulmonary HTN ```

Answer 131

For most infants with laryngomalacia (LM) the prognosis is excellent. The natural course typically involves gradual worsening after onset, with subsequent spontaneous resolution. LM is most severe when the child is 6 to 8 months of age, before gradually improving spontaneously by 12 to 24 months of age.

Answer 132

laryngomalacia

Answer 133

laryngomalacia

Answer 134

laryngomalacia

Answer 135

Meconium aspiration syndrome (MAS) is defined as respiratory distress in the newborn due to the presence of meconium in the trachea. It occurs exclusively in the immediate neonatal period. It also covers respiratory distress in an infant, born through meconium-stained amniotic fluid, that cannot be explained otherwise. Defined as respiratory distress in the newborn due to the presence of meconium in the trachea. Infants born through meconium-stained amniotic fluid are at risk of developing meconium aspiration syndrome, particularly in the presence of maternal and fetal risk factors. Soon after birth, infants present with respiratory distress (tachypnoea, chest retractions, and hypoxia). Some may be asymptomatic and apparently vigorous at birth, and develop severe respiratory distress hours later. Signs of post-maturity, a strong risk factor, include green/yellow-coloured skin; long, stained nails; and dry, scaling skin. Diagnosis is confirmed by chest x-ray. Management is largely supportive. Infants should be monitored closely to ensure adequate oxygenation and ventilation. In the presence of persistent pulmonary hypertension, inhaled nitric oxide and extracorporeal membrane oxygenation therapy may be required.

Answer 136

MAS is a serious complication associated with meconium-stained amniotic fluid (MSAF). In general, MSAF is found in 7% to 22% of term deliveries, with higher rates (22% to 44%) in post-term deliveries (>42 weeks). >MAS with gestational age Induction of labour reduces chances

Answer 137

Meconium is the first stool of the newborn. It is a collection of secretions from the fetal intestine and is a sterile, thick, black-green, viscous material containing pancreatic and biliary secretions, swallowed fetal cells, hair, and vernix. If aspirated into the lungs it causes local inflammation of the airways and release of several cytokines. Presence of meconium in the amniotic fluid and aspiration of meconium-stained amniotic fluid (MSAF) are the main causes of MAS. Passage of meconium may be a physiological maturation phenomenon during fetal development, and MSAF is uncommon between 20 weeks' and 34 weeks' gestation. MSAF may have pathological causes: fetal distress and intrapartum hypoxia secondary to placental insufficiency, cord compression, cord around the neck, oligohydramnios, maternal hypertension, pre-eclampsia, maternal diabetes, maternal drug abuse, or smoking. These factors can lead to gasping and aspiration of meconium by the fetus and the newborn. Certain infections, such as group B streptococcal infections and listeriosis, may be associated with MAS. However, one study found no evidence of maternal or neonatal listeriosis in MAS cases and concluded that MSAF is not a useful indicator for listeriosis in mother or baby. Maternal chorioamnionitis may also contribute to stress and fetal passage of meconium. During delivery, about 5% of neonates with meconium passage aspirate the meconium, triggering lung injury and respiratory distress.

Answer 138

``` STRONG >42w Maternal: HTN, pre-eclampsia, eclampsia, smoking, substance abuse Fetal distress Oligohydramnios Thick meconium Apgar score <7 Chorioamnionitis CS ``` WEAK Black/east asian Male

Answer 139

``` RFs Sx of postmaturity: green/yellow-coloured skin and umbilical cord; long, stained nails; dry and peeling skin; post-mature appearance; and loss of subcutaneous tissue Tachypnoea Cyanosis Systolic murmur Chest wall asymmetry (tension pneumo) Dec AE Barrel shaped chest Grunting Chest retractions Rales Rhonchi Tachycardia Hypotension ```

Answer 140

CXR - irregular pattern, patchy infiltrations, atelectasis, hyperexpanded lung fields, consolidation; may show pleural effusion, pneumothorax, or pneumomediastinum; cardiomegaly may be seen FBC - rule out infection CRP - rule out infection Blood culture - Normal

Answer 141

``` O2 ABx - gentamicin CPAP ventilation Vasopressor if low BP Surfactant may be given through ET ``` Severe resp distress: Morphine sulfate + intubation Infants who are refractory to mechanical ventilation with high oxygen inspiration and surfactant treatment invariably have concomitant persistent pulmonary hypertension (PPHN). iNO should be given with a starting concentration of 20 ppm, along with conventional or high-frequency ventilation ECMO - last line

Answer 142

The course of MAS may vary from mild to moderate disease to a severe form leading to death, unless prompt appropriate intervention is provided. Data from a large population of term babies with the diagnosis of MAS corroborate previous observations in smaller population studies. In most infants (80%), the course of illness is short, lasting 3 to 4 days, after which they are discharged home. Nine percent of patients are transferred to level III+ intensive care units. Most of these infants spend 1 to 2 weeks under respiratory support and are discharged home, 5% require oxygen support at discharge (at 28 days of life), and 4.9% developed seizures Long-term follow-up studies suggest that MAS infants may have several neurological developmental disabilities, particularly if they have experienced in utero hypoxia.

Answer 143

``` Pneumothorax Persistent pulmonary HTN Pneumomediastinum Chronic lung disease Cerebral palsy Seizure Reactive airway disease Infections ```

Answer 144

Meconium aspiration syndrome

Answer 145

Meconium aspiration syndrome

Answer 146

Meconium aspiration syndrome

Answer 147

The most common congenital malformation of the small bowel, Meckel's diverticulum (MD) is present in 1% to 3% of the population. It is a true diverticulum that results from the failure of the vitelline duct to obliterate during the fifth week of fetal development. Patients are often asymptomatic. However, this embryological remnant may cause bleeding, obstruction, inflammation, or perforation. Most common congenital abnormality of the small bowel. Majority of patients remain asymptomatic for their entire life. Majority of symptomatic patients present before the age of 2 years. GI bleeding is a common presenting symptom in children and adults. The most useful diagnostic tool in cases with bleeding is the technetium-99m pertechnetate scan (Meckel's scan). Obstructive symptoms are another common presenting symptom and may be caused by several mechanisms, including intussusception. Meckel's diverticulitis occurs in 20% of patients who become symptomatic and is clinically indistinguishable from appendicitis.

Answer 148

Meckel's diverticulum (MD) is a congenital abnormality of unknown cause. It results from an incomplete obliteration of the omphalomesenteric (vitelline) duct. In the 3-week-old embryo, the yolk sac communicates with the gut through a wide vitelline duct, which receives its blood supply from paired vitelline arteries. During week 8, the duct is normally obliterated when the placenta replaces the yolk sac as the source of fetal nutrition. The left vitelline artery usually involutes and the right one forms the superior mesenteric artery.

Answer 149

Most common congenital malformation of the small bowel 1% to 3% of the population. Most asymptomatic Males 2-3x more likely to have symptomatic complications

Answer 150

``` Age <2 Haematochezia Intractable constipation N+V (SBO) Abdominal cramps RLQ abdominal pain ``` UNCOMMON Palpable abdominal mass Hypotension/tachycardia (GI bleed)

Answer 151

FBC - leukocytosis / low Hb Technetium 99 - ectopic focus Plain abdo X-ray - dilation/pneumoperitoneum/intussusception CT abdo/pelvis - blind-ending fluid-filled and/or gas-filled structure in continuity with distal ileum US abdomen / contrast enema - IF intussusception is suspected

Answer 152

ASYMPTOMATIC - no Rx / could excise SYMPTOMATIC Bleeding - excision + ?blood transfusion Perforation - give ABx: cefotaxime + clindamycin/metronidazole

Answer 153

If symptomatic patients are treated in a timely fashion, the prognosis for Meckel's diverticulum (MD) is excellent. The risk of developing a postoperative complication ranges from 2% to 7%. The most common post-surgical complication is adhesive bowel obstruction.

Answer 154

PostOP: - wound infection - intestinal leakage - BO

Answer 155

Meckel's diverticulum

Answer 156

Meckel's diverticulum

Answer 157

Meckel's diverticulum

Answer 158

Neonatal jaundice is the yellowing discoloration of the skin and sclera of a neonate, which is caused by increased levels of bilirubin in the blood. A neonate refers to an infant in the first 28 days of life Usually noted clinically when serum bilirubin is >85.5 micromol/L (5 mg/dL). Occurs in 50% to 70% of term neonates. Most cases physiological. Jaundice in the first 24 hours of life is considered pathological. Treatment for severe hyperbilirubinaemia includes phototherapy and/or exchange transfusion. The major complication of unconjugated hyperbilirubinaemia is kernicterus.

Answer 159

Most common condition in newborns requiring medical attention 50-70% of term babies 80% of preterm Usually appears 2-4 days old -> resolves 1-2 weeks later without the need for Rx Hyperbilirubinaemia <8% births

Answer 160

``` STRONG East asian American indian Maternal diabetes LBW <37weeks Decreased caloric intake/WL Breast feeding ``` WEAK Oxytocin in labour Delayed cord clamping

Answer 161

Physiological jaundice can be a result of: Increased bilirubin load secondary to increased red blood cell (RBC) volume, decreased RBC life span, or increased enterohepatic circulation Decreased uptake by the liver because of decreased ligandins or binding of ligandins to other anions Decreased conjugation in the liver because of decreased uridine diphosphoglucuronyl transferase (UDPGT) activity. UGT1A1 gene polymorphisms of Gly71Arg and TATA promoter, which decrease UDPGT enzymatic activity, have been noted to be significant risk factors associated with neonatal hyperbilirubinaemia Decreased excretion into bile. Pathological jaundice with unconjugated hyperbilirubinaemia can be a result of: Haemolytic anaemias: these result in increased destruction of RBCs, with resultant increased haem, which is converted to excess unconjugated bilirubin; the immature liver is unable to handle the excess load. They can be the result of blood group incompatibility (rhesus, ABO), RBC enzyme defects (glucose-6-phosphate dehydrogenase deficiency; pyruvate kinase deficiency), RBC membrane defects (e.g., hereditary spherocytosis, infantile pyknocytosis), thalassaemia, drug-induced (by vitamin K, sulphonamides, nitrofurantoin, anti-malarials, penicillin), or sepsis Extravasation of blood: sequestration of blood in cavities result in increased bilirubin load. Examples include cephalhaematoma; intracranial, pulmonary, or gastrointestinal haemorrhage; large haemangiomas; excessive ecchymoses; or petechiae Polycythaemia: increased number of RBCs leads to increased production of bilirubin Increased enterohepatic circulation: delayed gastrointestinal transit increases bilirubin levels. Examples include intestinal atresia/stenosis, pyloric stenosis, Hirschsprung's disease, meconium ileus/plug syndrome Defective conjugation: congenital deficiencies of UDPGT enzyme include Crigler-Najjar syndrome; UDPGT enzyme inhibition can be the result of drugs (e.g., novobiocin), or Lucey-Driscoll syndrome Metabolic conditions (galactosaemia, hypothyroidism, tyrosinosis, hypermethioninaemia, maternal diabetes) Breastfeeding (including failure to establish lactation) Decreased binding of bilirubin to albumin: increased availability of the free (unconjugated) bilirubin to cross the blood-brain barrier. This can be caused by drugs (sulphonamides, penicillin, gentamicin), acidosis, asphyxia, hypothermia, increased osmolality, or hypoglycaemia. Pathological jaundice with conjugated hyperbilirubinaemia (direct bilirubin is >34.2 micromol/L (2.0 mg/dL)) can be a result of: Hepatocellular disease: Metabolic or genetic defects. Examples include alpha1-antitrypsin deficiency, cystic fibrosis, Zellweger's syndrome, Dubin-Johnson syndrome (absence of multidrug resistance-associated protein 2 from the canalicular membrane of hepatocytes), Rotor's syndrome (organic-anion-transporting polypeptide [OATP]1B1 and OATP1B3 are absent at the sinusoidal membrane of hepatocytes), and galactosaemia Infections. Examples include rubella, cytomegalovirus, herpes, syphilis, hepatitis A and B, toxoplasmosis, and urinary tract infection with Escherichia coli Total parenteral nutrition [10] Neonatal haemochromatosis Idiopathic neonatal hepatitis Shock. Intrahepatic biliary disease due to Alagille syndrome (arteriohepatic dysplasia), or inspissated bile syndrome Extrahepatic biliary disease due to biliary atresia, choledochal cyst, bile duct stenosis, cholelithiasis.

Answer 162

Jaundice (first appearing on face - spreads caudally) Male FHx anaemia/splenectomy/jaundice Maternal exposure to sulphonamides/antimalarials BILIRUBIN ENCEPHALOPATHY Sx: Hypertonia High pitched cry Retrocollis (cervical dystonia (CD) that produces patterned, repetitive muscle contractions that result in neck extension) Opisthotonus (spasm of the muscles causing backward arching of the head, neck, and spine)

Answer 163

Transcutaneous bilirubinometer - screening test: elevated Serum bilirubin - Increased Coombs - to diagnose ABO/RH iso-immunisation FBC - potential sepsis Reticulocytes - pot sepsis Peripheral blood smear - haemolysis causes

Answer 164

Physiological = no Rx Jaundice is physiological if it occurs in the second postnatal day and resolves in 7-10 days and transcutaneous measurement is normal. Acute bilirubin encephalopathy - Immediate exchange transfusion - Phototherapy - Hydration - IVIG Treat underlying cause

Answer 165

Most neonates with neonatal unconjugated hyperbilirubinaemia do well after phototherapy and/or exchange transfusion. Kernicterus should be preventable if recommendations for hyperbilirubinaemia management are carried out in a timely manner.

Answer 166

Neurological damage Acute bilirubin encephalopathy Exchange transfusion complications (electrolyte disturbances, bleeding, infection, cardiac arrhythmias, thrombosis with embolisation, necrotising enterocolitis, and graft-versus-host disease) Phototherapy complications (insensible water loss, loose stools, skin rash, and potential retinal damage) Kernicterus (chronic bilirubin encephalopathy) - diagnosed pathologically by gross yellow staining and necroses of neurons in the basal ganglia, hippocampal area, and cerebellum. If the neonate survives, the clinical features include chorio-athetoid cerebral palsy, paralysis of upward gaze, sensorineural hearing loss, dental dysplasia, and intellectual deficits (less often in the mental retardation range).

Answer 167

Neonatal jaundice

Answer 168

Neonatal jaundice

Answer 169

Neonatal jaundice

Answer 170

Constipation in childhood is the infrequent passage of stools leading to 1 or more of the following: painful defecation; overflow faecal incontinence; rectal faecal impaction; or active defecation avoidance behaviour. Childhood constipation is typically characterised by infrequent bowel evacuations, large stools, and difficult or painful defecation. Symptoms may result from low fibre, poor nutrient, and/or insufficient water intake, which leads to excessive hardening of the stool. This often starts as an acute problem but can progress to faecal impaction and chronic constipation. Particularly in young children, any cause of painful defecation may provoke active withholding. Withholding may worsen the constipation and lead to a vicious cycle. Duration of constipation and amount of stool burden may depend on capacity of the child's rectum, the degree of megarectum, and other factors including rectal sensory function. After faecal disimpaction, maintenance stool softeners are essential and are often required for many months or years to reduce relapse risk.

Answer 171

In most children, no aetiological factors can be found. Childhood constipation results from a combination of painful defecation (from any cause) and a rectum of sufficient capacity to allow stools to be withheld. The likely sequence of events probably follows initial hard stools, often due to low fibre, poor nutrient, and/or insufficient water intake or, less commonly, due to delayed colonic motility. The excessive colonic time for stool transport leads to high levels of colonic reabsorption of water and further hardening of the stool. This often starts as an acute problem, which can then progress to: Pain on passing the stool, which leads to involuntary and later learned sphincter contraction to avoid discomfort Increasing delays between episodes of defecation, leading to enlargement of residual stool volume in the rectum Further increase in the size of the loaded rectum and more effective withholding tactics Increase in pain and fear as delayed stool is incrementally larger and thus even more painful Eventually, overflow faecal incontinence occurs when the stool stimulates rectal contractions and the internal sphincter temporarily relaxes, with passage of softer stool going around retained hardened fragments.

Answer 172

``` STRONG Low fibre Poor nutrient Genetic predisposition Infection Stress Obesity Low birth weight Psychiatric Hx ``` WEAK Immune dysregulation Low fluid intake Trauma

Answer 173

3% of consultations in an average paediatric clinic Prevalence - 0.7% to 26.9%

Answer 174

``` COMMON Difficult/painful defecation Long interval between stools Faecal incontinence Small volume, soft incontinent tool Faecal incontinence Palpable faecal mass per abdomen Otherwise healthy child Abdominal pain ``` ``` UNCOMMON Anal tissue Associated bladder problems Abnormal anal appearance Abnormal neuro examination ```

Answer 175

1st investigations: NONE - history and examination findings are often sufficient to diagnose the condition. CONSIDER X-ray - if stool non-palpable USS - may see rectal mass Rectal mucosal biopsy - usually only done if abdominal distension and no passing of meconium: excludes Hirschsprung's

Answer 176

NO IMPACTION <1yo Dietary modification Osmotic laxative: Lactulose 1ml/kg OD/BD NO IMPACTION >1yo Could add Senna <1 tablet daily With impaction <3yo Usually need a laxative - lactulose / glycerol rectal / polyethene glycol With impaction >4yo Could do all of above AND phosphate enema IE overall: Osmotic laxative + stimulant laxative + faecal softener Faecal softener: liquid paraffin / docusate sodium

Answer 177

1/3rd continues through puberty Long-term prognosis depends on the degree of megarectum and the presence of other illnesses, particularly psychological disorders such as autism, or major psychosocial problems.

Answer 178

``` Anal fissure Incontinence Abdominal pain Dehydration Megarectum Aspiration pneumonia ```

Answer 179

Constipation

Answer 180

Constipation

Answer 181

Constipation

Answer 182

The involuntary passage of stool from the rectum through the anus resulting in episodes of stooling at inappropriate times, occurring at an age after which toilet training is typically complete (in most, 4 years of age or older). Involuntary defecation at inappropriate times, occurring after the typical age of completed toilet training (generally 4 years). In most cases, caused by overflow soiling associated with chronic constipation and severe faecal impaction in an otherwise healthy child without underlying anatomical abnormalities. May have a significant negative impact on the quality of life for the child and the family. A thorough history and physical examination are the crux of diagnosis. Laboratory and radiological studies may be used on a case-by-case basis to determine the underlying aetiology. The goal of therapy is for patient to stool 1 to 3 times per day in the toilet with no episodes of soiling. Treatment involves complete colon disimpaction, long-term treatment with laxatives and stool softeners, and bowel re-education. Any underlying causes should also be addressed.

Answer 183

Functional faecal incontinence associated with chronic constipation and severe faecal impaction The child has no underlying anatomical abnormality, but the severe faecal impaction leads to dilation of the rectum. Chronic dilation leads to decreased rectal sensation, so the child has less urge to defecate. Softer stool forms above the hard impaction, and the softer stool leaks around the hard stool, known as 'overflow'. Functional non-retentive faecal incontinence The exact aetiology is unknown, but possible contributing factors include psychological, behavioural, or emotional disturbances, genetics, and decreased motor function and sensation in the gastrointestinal tract. Aetiology is likely to be multi-factorial. [10] Organic faecal incontinence Anatomical abnormalities of the gastrointestinal tract or neurological denervation of the gastrointestinal tract leads to inability to control bowel movements. [11] The child has either an underlying anatomical abnormality (e.g., anorectal malformations, spinal and neurological abnormalities, or post-surgical abnormality) that causes the lack of bowel control, or a medical condition (e.g., hypothyroidism, coeliac disease, or cystic fibrosis) that may result in faecal impaction with overflow incontinence. Medication overuse Rarely, faecal incontinence may be due to overuse of medication (i.e., laxatives or orlistat) used mainly by adolescents and adults.

Answer 184

The overall prevalence of faecal incontinence was found to be 3%, with more boys (3.7%) than girls (2.4%) being affected. Anorectal malformations occur in 1 in 5000 live births, and 25% of these children experience faecal incontinence that requires long-term treatment.

Answer 185

``` STRONG Chronic constipation Male sex Age 5-6yo Diet lacking in fibre Inadequate fluid intake Delayed or inadequate toilet training Anorectal Malformations Hirschprung's (50% post surgery) Spinal abnormalities ie bifida ``` WEAK Psychological or behavioural problems due to stressful family events

Answer 186

``` COMMON Hx surgery Faecal soiling or diarrhoea Constipation Perianal skin irritation Behaviour problems Abdo cramping Posturing Enuresis Anorectal malformation Anormal abdo examination ``` UNCOMMON Abnormal rectal examination Spinal deformities Weakness/absent reflexes

Answer 187

1st: Abdo Xray - severe stool retention in faecal incontinence associated with chronic constipation; large, distended bowel loops (bottleneck appearance) may be noted in Hirschsprung's disease OTHER Consider barium enema if suspecting hirschsprungs (no poo in >72hrs) If hypo thyroid Sx - TSH/T4 Sweat chloride if suspect CF Manometry studies - abnormal sphincter

Answer 188

With faecal impaction: 1. Oral laxative - liq paraffin, magnesium citrate or polyethylene glycol 2. Enema - sodium phosphate or liquid paraffin 3. BOTH enema and laxative With organic cause unresponsive to Rx - surgery Bowel retraining - get child to strain for 5-10 mins per day 3x Loperamide

Answer 189

Functional non-retentive In one study, only 29% of the patients with functional non-retentive faecal incontinence were successfully treated after 2 years of intensive therapy. After 18 years of age, 15% continued to have faecal incontinence despite treatment. Anorectal malformations Patients with vestibular fistula, perineal fistula, rectal atresia, recto-urethral bulbar fistula, or imperforate anus without fistula will probably have voluntary bowel movements by 3 years of age.

Answer 190

Poor QoL Irritant dermatitis of peri-anal area / buttocks / perineum Worsening soiling Enuresis

Answer 191

Faecal incontinence in children Functional

Answer 192

Enuresis is defined as normal micturition that occurs at an inappropriate or socially unacceptable time or place. As recommended by International Children's Continence Society, in this monograph 'enuresis' is reserved for micturition during sleep, or bedwetting. Daytime wetting is called 'incontinence'. Primarily nocturnal symptoms in children older than 5 years of age. Differentials include diabetes, medications, emotional problems, UTI, spina bifida, seizure disorder, and neurogenic bladder. Treatment is commonly involves behavioural changes, alarm therapy, or desmopressin. Emotional support and encouragement is vital to management.

Answer 193

Prevalence at 5yo = 5-10% A report from the UK states that between 2% and 3% of 12- to 14-year-olds and 1% to 2% of people aged 15 years and older wet the bed twice a week on average. In otherwise healthy adults aged 18 to 64 years, studies show a 0.5% prevalence of enuresis.

Answer 194

Disorders of sleep arousal Decreased functional bladder capacity Nocturnal polyuria - Poorly concentrated urine as assessed by urinalysis can also be indicative of nocturnal polyuria. Nocturnal overactive bladder - Children who do not respond to interventions with alarm therapy or desmopressin may suffer from overactive bladder. Often daytime symptoms are masked by moderating fluid intake to minimise daytime urination.

Answer 195

STRONG Genetic predisposition Upper airway ob/sleep disordered breathing WEAK Constipation ADHD Psychological disorders

Answer 196

``` RFs Increased fluid intake at night Urinary frequency - is variable and can be too frequent (>8 voids per day) or too infrequent (<3 voids per day). Constipation Caffeine ``` UNCOMMON Urinary urgency

Answer 197

Urinalysis - N To exclude infection, signs of renal disease, poor urine concentrating ability, or glycosuria indicative of diabetes mellitus. In monosymptomatic nocturnal enuresis, U/A should be normal. Urinary tract US - N

Answer 198

<7yo - reassurance - Rx only begins after this Bladder training Alarm therapy Desmopressin - 0.2 to 0.4 mg orally once daily at bedtime, dose may be increased up to 0.6 mg/day SOME PTs Detrusor relaxing drugs: oxybutynin 5mg orally Tolterodine 1mg orally

Answer 199

Psychological disorders

Answer 200

While short-term recurrence is the rule, especially with pharmacological interventions, long-term resolution is almost inevitable as only 0.5% of adults have nocturnal enuresis

Answer 201

Rhesus (Rh) incompatibility is caused by destruction of fetal red blood cells (RBCs) from transplacental passage of maternally derived immunoglobulin G (IgG) antibodies. IgG antibodies are produced by the maternal immune system, usually against the RhD antigen. These antibodies can freely cross the placenta, binding to and destroying RBCs. More than 50 known RBC antibodies potentially cause Rh incompatibility. The consequence is progressive fetal anaemia, which, untreated, may ultimately lead to hydrops fetalis (collection of fluid in serous compartments) and death. Maternal antibodies produced in response to paternally derived D antigens on fetal red blood cells are the leading cause of severe haemolytic disease of the fetus and newborn (erythroblastosis fetalis). Effective immunoprophylaxis of rhesus D-negative at-risk mothers is key to primary prevention. Intrauterine fetal transfusion is a life-saving treatment for severely affected fetuses. Survival rates are more than 90%.

Answer 202

About 15% of the white population has a RhD-negative blood type. Seven percent of black people have this blood type. In the UK, about 16% of the white population is RhD negative. In 2005, it was estimated that about 65,000 RhD-positive babies were born in the UK to women who were RhD-negative (accounting for 10% of all births).

Answer 203

Rh incompatibility is caused by destruction of fetal red blood cells (RBCs) from transplacental passage of maternally derived immunoglobulin G antibodies. Passage of fetal cells into the maternal circulation and fetomaternal haemorrhage (FMH) is a frequent occurrence, detectable in 65% of pregnancies either antenatally or in the early postnatal period. Placental trauma of varying degrees may lead to sensitising FMH. FMH increases throughout pregnancy (3% first trimester, 43% second trimester, and 64% third trimester). FMH has been found in 1% to 6% of external cephalic versions. Small amounts of FMH (>0.1 mL) are potentially immunising and occur in 2% of patients undergoing amniocentesis. The incidence of FMH at the time of chorionic villus sampling is about 14%. The incidence is higher with transplacental cordocentesis.

Answer 204

``` STRONG RhD neg mother FMH Invasive foetal procedures Placental trauma Abortion Multiparity Omission of Rh immunoprophylaxis ``` WEAK ECV Molar pregnancy Ectopic pregnancy

Answer 205

1st Maternal blood - Rh-neg Maternal serum Rh Ab screen - +ve screen Consider Paternal blood typing Fetal US - signs of fetal anaemia - may show subcutaneous oedema, ascites, pleural effusion, or pericardial effusion Doppler of MCA - ≥1.5 MoM - fetal anaemia Kleihauer-Betke test/flow cytometry- measures fetal blood in maternal circulation

Answer 206

Anti-D immunoglobulin - After FMH - Amniocentesis / chorionic villus - >40 weeks gestation Intravascular intrauterine blood transfusions possible Neonates with erythroblastosis are immediately evaluated by a paediatrician to determine the need for exchange transfusion, phototherapy, or intravenous immunoglobulin.

Answer 207

RhD alloimmunisation is a disease that will usually progress during the pregnancy and in future pregnancies. Therefore, follow-up of these patients is required through antibody titres and fetal middle cerebral artery Doppler ultrasound during subsequent pregnancies.

Answer 208

Hyperbilirubinaemia and kernicterus - Encephalopathy, athetoid cerebral palsy, and/or sensorineural deafness may result from deposition of bilirubin into the basal gangli Transfusion related fetal Brady Transfusion related neurodevelopmental disorders Fetal / neonatal hydrops - Hydrops fetalis is defined as abnormal accumulation of fluid in 2 or more fetal compartments. Neonatal anaemia

Answer 209

Rh incompatibility

Answer 210

Rh incompatibility

Answer 211

Rh incompatibility

Answer 212

Intestinal malrotation is a term used to describe an entire spectrum of rotational and fixation disturbances that can occur during embryonic development. Abnormal caecal attachments to the right upper peritoneal cavity (i.e., Ladd’s bands) can cross the second portion of the duodenum creating an extraluminal low-grade obstruction of the duodenum, which may present with signs of partial obstruction. However, the most significant pathological concerns in malrotation are a lack of intestinal fixation to the retro-peritoneum and a narrow midgut mesenteric base that predisposes to a twisting of the small bowel in the form of midgut volvulus. This condition creates an abrupt obstruction of the duodenum, resulting in bilious vomiting. If the twisting at the base also obstructs flow in the superior mesenteric artery, the entire small intestine and proximal colon may become acutely ischaemic and subsequently necrotic within a few hours. Patients with malrotation are at risk for volvulus and should be identified whenever possible to allow for proper therapy. An entire spectrum of rotational and fixation disturbances that can occur during embryonic development. The anatomical variant that poses the highest risk of volvulus is a narrow midgut mesenteric base accompanied by lack of retro-peritoneal midgut fixation. This variant cannot be reliably determined from any radiological studies. Malrotation predisposes patients to a risk of midgut volvulus. Emergency surgical consultation is appropriate before obtaining any diagnostic studies if midgut volvulus is suspected. Upper GI contrast studies should be ordered in patients who are stable. Treatment is surgical correction, the procedure of choice being the Ladd procedure.

Answer 213

0.2% of upper GI contrast studies Autopsy suggests 0.5%

Answer 214

Congenital

Answer 215

Embryological abnormality

Answer 216

``` COMMON Billous green vomiting (>90% of midgut volvulus) Abdominal pain (inconsolable state) Infant <1y Normal abdo exam - a distended abdomen is more commonly a bowel obstruction further downstream. Vomiting and abdominal pain with a flat abdomen should alert physicians to the presence of volvulus Distention Tenderness Tachycardia + HTN Tachycardia + hypotension ``` UNCOMMON WL Dark blood in nappy Rebound tenderness and guarding

Answer 217

1st Ix Upper GI contrast - right-sided duodenum (malrotation); duodenum courses inferior or medial to normal (malrotation); bird-beak cut-off of duodenum (volvulus); corkscrew of duodenum (volvulus); a web in the duodenum (duodenal atresia) CT Abdo with oral+IV contrast - no oral contrast beyond duodenum (volvulus); no contrast in the distal superior mesenteric artery (volvulus with ischaemia); twirling of the superior mesenteric artery and vein (volvulus); transposition of superior mesenteric artery and vein (malrotation); a transition point in bowel calibre, right-sided duodenum; duodenum courses anterior or to right of superior mesenteric artery Plain abdo x-ray - distended stomach and proximal duodenum with paucity of bowel gas seen distally (volvulus or duodenal web); normal x-ray (malrotation without volvulus or volvulus without complete obstruction) FBC - may have elevated WCC/polycythaemia ABG - metabolic acidosis with respiratory alkalosis resulting in profound decrease in partial pressure of carbon dioxide

Answer 218

OBSTRUCTION WITH ISCHAEMIA Emergency surgery - open laparotomy + Ladd procedure + Cefoxitin IV before surgery Obstruction without ischaemia Urgent surgery - ladd procedure open laparotomy IF intermittent/partial Can do open or laparoscopic

Answer 219

Mortality with midgut volvulus is approximately 10% and usually depends on degree of intestinal necrosis. Survivors of volvulus are at risk for recurrent volvulus of around 10%.

Answer 220

Short-gut syndrome post op Volvulus following Ladd procedure Ladd procedure related adhesive small bowel

Answer 221

Intestinal malrotation

Answer 222

Intestinal malrotation

Answer 223

Child abuse (including neglect) is any form of maltreatment of a child, either by inflicting harm or by failing to act to prevent harm. Children may be abused in a family, institutional, or community setting, by those close to them, such as a parent or caregiver or, more rarely, by a stranger. They may be abused by adults or by other children. There are 4 categories of child abuse: physical abuse, emotional abuse (also called psychological maltreatment), sexual abuse, and neglect. This monograph primarily addresses physical child abuse. For information on sexual child abuse, please see our detailed content on sexual abuse.

Answer 224

Child abuse is a world-wide phenomenon and can affect children of all ages; however, the highest incidence occurs to infants and toddlers In industrialised countries it is estimated that 4% to 16% of children are physically abused, around 10% are neglected or emotionally abused, 5% of boys and 5% to 10% of girls are exposed to penetrative sexual abuse, and 30% are exposed to any form of sexual abuse. Around 80% of child abuse is perpetrated by carers or parents.

Answer 225

STRONG Domestic violence Substance abuse/ mental health disorder in parents Excessive crying/frequent tantrums in infancy Immature parents/coping skills Parent / carer abused as child WEAK Poor socio-economic status Demanding parenting role

Answer 226

COMMON RFs Inconsistent/changing Hx Inconsistent injuries in isolation/combination IE - unexplained bruising in a pre-mobile child and other suspicious injuries that do not fit with the developmental age of the child (e.g., a child not yet independently mobile may be unlikely to fall against a particular object). Bruising Subdural haemorrhages in infant/young toddler Long bone fractures in premobile child - high specific for abuse Rib fractures in absence of major trauma Immersion scalds Family known to social services Poor bonding Faltering growth Dental neglect Petechaie with bruising Extensive multilayered retinal haemorrhages extending to peripheries ``` UNCOMMON Small bowel perforation in child <3 Torn Frenum Apnoeas Cigarette burns Frequent accidental poisonings Contact burns Dental injuries Caustic burns ```

Answer 227

``` FBC - check platelets/anaemia Clotting profile - exclusion Dilated fundoscopy Skeletal surgery CT brain - haemorrhages LFTs - raised with direct injury Serum calcium - N Serum phosphate - N Alk-phos - raised with fracture PTH - N Vit D - N VWF assay ```

Answer 228

Management of injuries Reporting to authorities - Doctors may be asked to provide written reports for use in multidisciplinary meetings, police investigations, and civil or criminal courts, and may be required to appear as witnesses (of fact or as experts) in court. Social service intervention Mental health services - CBT/play therapy

Answer 229

The mortality from abusive head trauma (AHT) is high. Around 20% to 30% of AHT child victims die of their injuries, and around two-thirds survive only to have significant long-term disability, including neurological, behavioural, and cognitive sequelae. Children who have been abused manifest a variety of negative outcomes as adults, including high-risk behaviours such as binge drinking, drug use, and criminal behaviour. Child abuse of any form (emotional, physical, or sexual abuse, neglect) is also associated with increased mental health problems in adulthood. This may include depression, post-traumatic stress disorder, substance abuse, or anti-social personality disorder.

Answer 230

``` Kyphosis Psyhological scarring Difficulty with relationships PTSD Developmental delay Brain damage Failure to thrive Death Blindness Disfigurement ```

Answer 231

Child abuse

Answer 232

Child abuse

Answer 233

Osteomyelitis is an inflammatory condition of bone caused by an infecting organism, most commonly Staphylococcus aureus . It usually involves a single bone but may rarely affect multiple sites. Broadly, bone infection is either haematogenous (originating from bacteraemia) or contiguous focus (originating from a focus of infection adjacent to the area of osteomyelitis). Despite these different causes all forms of acute osteomyelitis may evolve and become chronic, sharing a final common pathophysiology, with a compromised soft-tissue envelope surrounding dead, infected, and reactive new bone. Suspect osteomyelitis in those with a history of open fracture, recent orthopaedic surgery, or a discharging sinus; in the immunocompromised patient; or in the unwell child. Plain radiographs provide a good initial imaging modality for screening acute and chronic osteomyelitis. Magnetic resonance imaging and computed tomography (CT) may be used to determine diagnosis and treatment decisions. In some cases positron emission tomography/CT or single-photon emission computed tomography/CT may have a role. Diagnosis must be confirmed using deep microbiological samples via radiological guided biopsy or open surgery. In chronic osteomyelitis, surgery to remove the dead bone is the primary treatment modality. Antibiotics alone cannot achieve a cure. Giving empirical antibiotics without microbiological sampling should be avoided, with the exception of patients who are septic and unwell. Even then, blood cultures should be taken before antibiotics are given. Only cultures from deep sites are reliable. There is no value in surface or sinus swabs.

Answer 234

A study in the US showed that the overall age- and sex-adjusted annual incidence of osteomyelitis was 21.8 cases per 100,000 person-years between 1969 and 2009. The annual incidence was higher for men than for women and increased with age.

Answer 235

Osteomyelitis may be caused from haematogenous spread, direct inoculation of micro-organisms into bone, or from a contiguous focus of infection. A trivial skin infection may be the source of bacteraemia, or it may have emerged as the result of a more serious infection such as acute or subacute bacterial endocarditis. Intravenous drug misuse has been linked to haematogenous osteomyelitis involving the long bones or vertebrae. Common micro-organisms in acute haematogenous osteomyelitis Infants: S aureus Group B streptococci Aerobic gram-negative bacilli Children up to 4 years: S aureus Streptococcus pyogenes Haemophilus influenzae (in those not immunised) Kingella kingae (increased incidence in children under 4 years) Older children and adults: S aureus Older adults: Gram-negative bacilli Patients with intravascular devices: S aureus Candida species Patients who misuse intravenous drugs: S aureus Pseudomonas aeruginosa Patients with sickle cell disease; patients from developing countries: S aureus Salmonella species

Answer 236

``` STRONG Penetrating injury Surgical contamination IV drug use DM Periodontitis ```

Answer 237

``` Non-specific pain at site of infection Malaise and fatigue Local inflammation, erythema, swelling Low grade fever Wound drainage Scars/previous flaps Reduced range of movement ``` ``` UNCOMMON UTI symptoms Torticollis Limb deformity Tenderness to percussion ```

Answer 238

WBC - High ESR - usually raised CRP - usually raised Plain X-ray - lytic lesion/osteopenia ``` Consider USS MRI bone CT scan Radionucleotide scans Histology - TB/actinomycosis require histology ```

Answer 239

Acute: High dose ABx - take blood cultures Chronic: May need debridement

Answer 240

Management of osteomyelitis in dedicated units, with close multidisciplinary working, is associated with high success rates and high patient-satisfaction scores. The prognosis from early intervention is usually better, particularly in the context of implant-related infection. Delay in treating these patients is likely to worsen long-term outcomes. The functional outcome for osteomyelitis of the lower extremity depends on the status of the foot and knee.

Answer 241

``` Drug reactions Flap failure Amputation Growth disturbance Joint stiffness Infection recurrence Fracture Neurological impairment secondary to bony collapse IV catheter related infections ```

Answer 242

Osteomyelitis

Answer 243

Osteomyelitis

Answer 244

Osteomyelitis

Answer 245

Paraphimosis is a condition caused when the foreskin of the uncircumcised penis is retracted and left behind the glans penis, leading to vascular engorgement and oedema of the distal glans. Medical emergency. Caused when the foreskin of an uncircumcised penis is retracted and left behind the glans, leading to vascular engorgement and oedema of the distal glans. In its acute form, it is a medical emergency requiring rapid evaluation and possible surgical decompression. Can occur at any age but is most common in children and older people. Circumcision is preventive and is curative if the process develops. Most cases are iatrogenic in aetiology - Phimosis = unretractable foreskin

Answer 246

The incidence of paraphimosis is unknown. Only isolated case reports exist in the literature. Due to the fact that most cases are iatrogenically or inadvertently induced, precise reporting of the condition may be compromised. Additionally, some patients may not report the condition or may allow it to evolve into the chronic form

Answer 247

The most common aetiology follows retraction of the foreskin of an uncircumcised male penis by a health professional during penile examination, catheterisation, or cystoscopy, who then neglects to return the foreskin back over the glans penis. The coexistence of poor hygiene and recurrent bouts of bacterial infection (balanitis) makes this condition more likely. Additional causes of paraphimosis include sexual intercourse in an uncircumcised male with phimosis (narrow opening of the foreskin), varying sexual practices that cause constriction of the foreskin, penile piercings, parasitic infestations, lichen sclerosis, inadequate circumcision, or haemangiomas of the penis.

Answer 248

``` STRONG Lack of circumcision Urinary catheterisation Dependence on carer Tight foreskin Phimosis Poor hygiene Bacterial infection Parasitic infection Lichen sclerosis DM Penile piercing Haemoangiomas ``` WEAK Peripheral vascular disease Inadequate circumcision

Answer 249

``` COMMON Penile pain Band of retracted foreskin tissue beneath the glans Swollen glans penis Indwelling catheter ``` UNCOMMON Black tissue on glans Non-pliable glans penis Inability to urinate freely

Answer 250

Ischaemia and necrosis: Urgent surgery No Ischaemia/Necrosis Manual manipulation Surgical reduction

Answer 251

Following prompt reduction of paraphimosis, most patients will have a full recovery. Foreskin swelling will subside over subsequent days. Depending on the aetiology, appropriate education of the patient and/or carers is recommended. Some patients may not warrant circumcision. Patients who have evidence of phimosis should be counselled about the appropriateness of circumcision. In addition, those who have a repeated episode of paraphimosis or have undergone a dorsal slit procedure warrant follow-up circumcision.

Answer 252

Necrosis of glans+foreskin

Answer 253

Paraphymosis

Answer 254

paraphymosis

Answer 255

paraphymosis

Answer 256

In infantile hypertrophic pyloric stenosis (HPS), hypertrophy of the pyloric sphincter results in narrowing of the pyloric canal. It is the most common cause of gastric outlet obstruction in the 2- to 12-week-old age group. Pyloric stenosis leads to progressive and projectile vomiting. Recurrent projectile non-bilious vomiting, typically in a 3- to-6-week-old infant (usually male), but may occur on older infants. Features may include a history of feeding intolerance with multiple formula changes. Failure to thrive/weight loss may progress to increasing volume depletion. An olive-shaped mass may be palpable in the right upper abdomen. Ultrasound shows pyloric channel length >17 mm and pyloric muscle thickness >4 mm. Treatment is with intravenous fluid and electrolyte replacement, followed by pyloromyotomy (open or laparascopic). Complications of surgery include wound infection, gastric or duodenal mucosal perforation, or incomplete myotomy.

Answer 257

2-4/1000 births | M:F 4:1

Answer 258

Hyperacidity as a result of antral distention with feeding and hypertrophy of the pylorus from repeated contraction is believed to be a cause. Additionally, poor pyloric muscle neuronal innervation is believed to play a role. Nitric oxide synthase deficiency is also implicated as a biochemical cause, by decreasing smooth muscle relaxation. Exposure to oral erythromycin, especially during the first 2 weeks of life, is associated with significant odds of developing pyloric stenosis.

Answer 259

STRONG 1st born male infant FHx WEAK Prematurity Erythromycin in 1st 2 weeks life Maternal exposure to macrolides

Answer 260

``` COMMON RFs Non-bilious projectile vomiting 3-6 weeks old Upper abdominal mass Multiple formula changes Tachycardia (volume depletion) Decreased wet nappies Dry MM Flat/depressed fontanelles Constipation Poor weight gain Irritability ``` UNCOMMON Peristaltic waves

Answer 261

U+E - in severe cases, hypochloraemic alkalosis and mild hypokalaemia USS abdomen - pyloric muscle thickness >4 mm, pyloric canal length >17 mm

Answer 262

IV fluid resus - Intravenous fluid replacement should be provided at 1.5 times maintenance rate with 5% dextrose plus 0.45% saline. Pyloromyotomy - after electrolyte balance corrected

Answer 263

The success of surgical treatment is near 100% and complication rates are negligible.

Answer 264

Post op emesis Surgical wound infection Surgical mucosal perforation Incomplete myotomy

Answer 265

Sepsis is a clinical syndrome resulting from a dysregulated immune response to infection. It is characterised by derangements in multiple pathobiological processes, which may lead to widespread tissue injury. It encompasses a clinical spectrum of severity, including severe sepsis, septic shock, and multi-organ failure. Sepsis is a leading cause of morbidity and mortality in children worldwide. Initial clinical presentation may be non-specific (especially in younger age groups). Given the time-critical nature of severe sepsis and septic shock, when sepsis is suspected on clinical grounds it is usually best to initiate sepsis investigations and treatment, including administering antibiotics and fluid resuscitation. These should continue until sepsis has been excluded. Progression to organ failure and shock is often very rapid, so early recognition and treatment is crucial. Empirical broad-spectrum antibiotic therapy (based on the most probable pathogens) should be administered as soon as possible, and always within the first hour following recognition. Other treatments are primarily supportive, and should be delivered according to internationally recognised consensus-based guidelines.

Answer 266

Case fatality 8.9% | Roughly 7.7% of paediatric ICU admissions

Answer 267

Early onset neonatal - think GBS, S.aureus, H influenza and coat neg staphylococci Late onset neonatal - coagulation neg staphylococci Infants + young children - S.pneumonia, N meningitidis, S aureus, H influenza Fungal (e.g., Candida species, Aspergillus species) and viral (e.g., influenza, respiratory syncytial virus, human metapneumovirus, varicella, and herpes simplex virus) pathogens account for up to 5.3% and 2.9% of severe sepsis in children

Answer 268

``` STRONG Immunodeficiency Comorbidities Younger age Perinatal RFs for infection - maternal fever, prolonged rupture of membranes (>18 hours), maternal carriage of group B streptococci, and chorioamnionitis; fetal factors include fetal distress and poor 5-minute Apgar score (i.e., ≤6). Healthcare associated factors: parenteral nutrition, mechanical ventilation, chronic central venous access, and use of vascular catheters (arterial, central venous, or peripheral). Recent surgery Breached skin integrity ``` WEAK Male

Answer 269

``` COMMON RFs Fever/low temp Tachypnoea Tachycardia Bradycardia (neonates/infants) Altered mental state Decreased perfusion Change in feeding Dec UO Mottling of skin, ashen appearance, cyanosis Low O2 sat ``` ``` UNCOMMON Vasoplegia Non-blanching purpuric rash Hypotension Specific focal Sx ```

Answer 270

``` FBC - inc WCC/thrombocytopenia Serum glucose BLOOD CULTURE - +ve Urinalysis - UTI focus Urine culture - UTI focus Blood gases - base deficit Serum lactate - >2 usually U+E - deranged Serum creatinine - elevated LFTs - abnormal Coagulation studies - abnormal CRP - elevated CXR - may reveal focus in older children ``` CONSIDER LP - if suspect meningitis HSV PCR blood/CSF

Answer 271

SEPSIS 6: 1. Administer oxygen - keep >94% 2. Take blood cultures - think source control 3. IV BS-ABx 4. IV fluid if lactate >2mmol - 500STAT NB lactate >4 = call critical care 5. Serial lactate - recheck after 10ml challenges 6. Measure UO + complete fluid balance chart - Maintain airway - Consider vasoactive-inotropic support, IE adrenaline/NA 0. 1-1microgram/kg/min May need blood transfusion Corticosteroid EMPIRAL ABX: Apicillin + Cefotaxime/Gentamicin OR BenPen + Gentamicin CONSIDER Aciclovir if severe sepsis (may be HSV1) Nystatin - prevents candidiasis IF neonatal - also give prostaglandins (Rx until duct-dependent cardiac lesion can be ruled out)

Answer 272

Without treatment, severe sepsis carries a mortality rate in excess of 80%. With treatment, overall mortality is approximately 10% in children up to the age of 19 years. In children with cancer, overall mortality from sepsis is 17%. The rate increases to 30% in children who have undergone haematopoietic stem cell transplants.

Answer 273

``` AKI Myocardial dysfunction DIC Hypoglycaemia Hyperglycaemia NEC MOF Persistent pulmonary hypertension of the newborn Hypocalcaemia Abdominal compartment syndrome Thyroid insufficiency Neurological sequelae ```

Answer 274

Pyloric stenosis

Answer 275

Systemic inflammatory response syndrome (SIRS): Generalised inflammatory response defined by the presence of 2 or more of the following criteria (abnormal temperature or white cell count must be one of the criteria): Abnormal core temperature (<36°C or >38.5°C [<97°F or >101°F]) Abnormal heart rate (>2 standard deviations above normal for age, or <10th percentile for age if child is <1 year of age) Raised respiratory rate (>2 standard deviations above normal for age, or mechanical ventilation for acute lung disease) Abnormal white cell count in circulating blood (above or below normal range for age, or >10% immature white cells).

Answer 276

Slipped capital femoral epiphysis (SCFE) is the most common hip disorder in the adolescent age group. It occurs when weakness in the proximal femoral growth plate allows displacement of the capital femoral epiphysis. SCFE is a misnomer; it is the metaphysis that displaces anteriorly and superiorly, leading to the slipped state. May present with an acute/insidious onset of pain and limp. The disorder is typically seen in the adolescent age group. Associated systemic disease is a common feature. Obligatory external rotation on hip flexion is a key examination finding. Recommended surgical treatment is in situ pinning; prophylactic fixation of the contralateral hip may be necessary when concomitant metabolic disease is present.

Answer 277

Roughly 1 in 10,000 M>F Average age of onset was 11.6 years for girls and 12.6 years in boys.

Answer 278

The aetiology of SCFE is unknown in most cases. Obesity is recognised as the most strongly associated risk factor. Obesity increases the shear stress across the physis, weakens it, and causes the characteristic displacement in SCFE. Hormonal involvement associated with the adolescent growth spurt may also provide insight into the aetiology of SCFE. The physis weakens at puberty, possibly due to the effect of circulating gonadotrophins. The weakening effect of testosterone on the physis offers a causative hypothesis for the high incidence in males. The lower incidence in female adolescents may be due to oestrogen increasing the strength of the physis and narrowing its width. SCFE is associated with endocrine disorders, but the vast majority of children with SCFE are obese. Radiotherapy is also thought to be a risk factor for the condition. There is no evidence of a genetic predisposition.

Answer 279

STRONG Puberty Obesity Endocrine disorders ``` WEAK Male sex Ancestry Geographic region Prior radiotherapy ```

Answer 280

COMMON Weight >90th centile RFs Gait with affected leg externally rotated Groin/Knee referred pain Bilateral hip pain - bilateral in 60% Tendelenburgs gait Restricted range of motion ``` UNCOMMON Weight <50th centile Symptoms of hypothyroidism/panhypopituitarism Renal failure - renal osteodystrophy Recent trauma ```

Answer 281

Bilateral anteroposterior xray - Klein's line does not intersect the femoral head Frog-leg lateral x-rays - Klein's line does not intersect the femoral head; Bloomberg's sign positive

Answer 282

Surgical repair | Prophylactic fixation of contralateral hip

Answer 283

Prognosis is related to the initial severity of the slip, success of surgery, avoidance of serious complications, underlying disorders, and bilaterality. A study of stable SCFE cases treated with surgical dislocation of the hip noted that 87% of cases had some degree of labral damage and 85% of cases had some degree of cartilage damage.

Answer 284

Chondrolysis Late deformity Contralateral hip SCFE Osteonecrosis

Answer 285

Slipped capital femoral epiphysis

Answer 286

"The sudden death of an infant under 1 year of age, which remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and a review of the clinical history". Leading cause of infant death beyond the neonatal period. Incidence roughly 1 in 2000 infants. Peak incidence between 1 and 3 months of age, although events may occur up to 12 months of age. Risk factors include exposure to tobacco smoke (antenatally and postnatally); prone and side sleeping; bed-sharing during sleep; a sleep environment that includes soft mattress and/or sleeping surface (including sofa or armchair), and placement of soft sleep bedding; over-bundling/over-heating; prematurity; exposure to alcohol and illicit drugs (antenatally and postnatally); and viral infection. Several risk factors may co-exist in any given patient. Protective factors include use of a dummy during sleep, immunisation, and breastfeeding. Careful evaluation of death by trained forensics teams is necessary to rule out other causes of death, including suffocation, asphyxia, entrapment, infection, ingestions, metabolic diseases, arrhythmia-associated cardiac channelopathies, and trauma (accidental or non-accidental).

Answer 287

SIDS remains the leading cause of post-neonatal infant death. 1 in 2000 infants Peak incidence 1-3months M>F Black>white

Answer 288

Aetiology is currently unknown. Indeed, the identification of a specific aetiology/acute process in an infant as a cause of death is sufficient to eliminate the diagnosis of SIDS. The frequent autopsy finding of mild upper airway inflammation in suspected cases of SIDS raises the possibility that intercurrent respiratory tract infections have a role in SIDS, particularly in combination with over-bundling. Associations with other modifiable risk factors such as sleeping position, sleeping surface, sleeping arrangements, smoke exposure, not breastfeeding, and non-use of a dummy have been well established, although direct causative roles have yet to be determined. These 3 key risk categories/factors are: A vulnerable infant (e.g., prematurity, low birth weight, disordered autonomic regulation) A critical period during homeostatic control development (e.g., cardiorespiratory regulatory mechanism maturation) An exogenous stressor (e.g., smoke exposure, sleep environment, over-heating).

Answer 289

``` STRONG Side/prone position at last sleep Bed sharing Soft sleeping environment Maternal cigarette smoking (ante+post) Increased number smokers in house Formula feeding Non-use of dummy Premature birth ``` ``` WEAK Maternal substance abuse Single mother Dec maternal age Low level antenatal care Low maternal education Low socio-economic status Black/american indian Lack of immunisations ```

Answer 290

Major risk factors include prone position at last sleep, bed-sharing, soft sleeping surface/environment, maternal cigarette smoking, increasing number of smokers in house, smoking in same room as child, premature birth, formula feeding, non-use of pacifier, and maternal alcohol or drug use. No factor appears to be sufficient, in itself, to initiate a SIDS event. Risk factors should be placed in the Triple-Risk hypothesis model and the aggregate of co-existing factors used to evaluate the risk of a SIDS event in any given patient.

Answer 291

Everything is negative | Autopsy inconclusive

Answer 292

Carer follow up + grief counselling

Answer 293

After a SIDS event, counselling is given to the parents and other carers and surviving siblings. It may be necessary to continue counselling for a period of time, as not all maladaptive behaviours may manifest immediately after the event. Parents should be offered testing for metabolic and genetic conditions that may mimic SIDS. For parents considering pregnancy again, reassurance can be given that the likelihood of another SIDS event is extremely low. After birth of subsequent children, healthcare providers can consider recommending more frequent follow-up, as much for parental reassurance as for monitoring the infants.

Answer 294

Conversion and somatic symptom disorders are psychiatric conditions that fall under the somatic symptoms and related disorders category of the DSM-5. Somatic symptom and related disorders are those with distressing physical symptoms that are not fully explained by other medical, neurological, or psychiatric disorders (also known as somatisation). Conversion disorder is characterised by voluntary motor or sensory function deficits that suggest neurological or medical conditions but are rather associated with clinical findings that are not compatible with such conditions. Somatic symptom disorder is characterised by one or more somatic symptoms that are distressing or result in significant disruption of daily life. To meet DSM-5 criteria, these patients must have excessive thoughts, feelings, or behaviours related to the somatic symptoms or associated health concerns as manifested by at least one of the following: disproportionate and persistent thoughts about the seriousness of one’s symptoms; persistently high levels of anxiety about health or symptoms; excessive time or energy devoted to these symptoms or health concerns. Importantly, even if any one somatic symptom is not continuously present, the state of being symptomatic is persistent (typically more than 6 months). Conversion and somatic symptom disorders are both categorised as somatic symptom and related disorders, previously termed somatoform disorders. Somatic symptom and related disorders are psychiatric conditions where patients experience distressing physical symptoms that are not fully explained by other medical, neurological, or psychiatric disorders, as well as abnormal thoughts, feelings, and behaviours in response to these symptoms. They may result from psychological stress that is unconsciously (without awareness) expressed somatically, though the underlying cause is not fully understood. Risk factors include being female, having a history of abuse or adverse childhood events, and having personality traits of alexithymia (difficulty expressing emotions) or neuroticism. Symptoms that persist with an external focus of control, and without awareness of the psychological and stress-related interplay, can lead to considerable functional impairment and distress. Diagnosis is made by clinical interview, behavioural observation, physical examination suggestive of pseudoneurological causes, and tests to rule out medical or neurological causes. The diagnosis should not be made solely on the basis of medically unexplained symptoms; rather, it should be based on evidence from the clinical examination and the patient’s abnormal thoughts, feelings, and behaviours in response to the medically unexplained symptoms. Good doctor-patient relationships and validation of the patient's suffering are essential for effective management. Treatment includes cognitive behavioural therapy and avoiding unnecessary medicines, tests, and procedures. Diagnosis and treatment of associated comorbid psychiatric conditions benefit overall functioning and recovery. Long-term management involves interrupting perpetuating factors, maintaining the same doctor, and providing strategies for self-efficacy, distress tolerance, coping, and modulating the interaction of anxiety, stress, and physical symptoms.

Answer 295

Chronic and/or acute intrapsychic (emotional/psychological) stress or conflict, in combination with either emotional processing deficits, avoidance tendencies, or social, cultural, or family taboos against emotional expression, seems to be important in the aetiology of somatisation. Societal attitudes in which people exhibiting psychological distress are less tolerated than those who are physically ill are also likely to reinforce somatisation. Cognitively, disturbances in attention and control through dissociation, misattribution, and misinterpretation probably contribute to both conversion and somatic symptom disorder symptoms.

Answer 296

75% female Conversion: 5-22/100k Early-mid adulthood Somatic: 10% to 15% of primary care patients have multiple unexplained symptoms that are present for >2 years The prevalence of somatic symptom disorder is not known but may be around 5% to 7%

Answer 297

``` Hx sexual/physical abuse Hx unstable childhood Hx trauma related disorders Female Alexithymia Neuroticism Previously poor doctor patient relationships ```

Answer 298

``` Recent stressors Unusual neurodeficits Give-way weakness False sensory findings Distractible symptoms Inconsistent paralysis "seizures with awareness" Bizarre movements Gait disorders Cognitive complaints Speech disturbance Swallowing disturbance ``` Psuedoclonus Convergence spasm

Answer 299

Lab - N EEG - N Personality testing - mental illness trait, personality disorder trait, hypochondriasis, depression, hysteria, anxiety, somatisation, pain disorder, or health concern

Answer 300

Psychotherapy CBT Hypnosis Biofeedback training benzodiazepines 1-2mg lorazepam, 5-10mg diazepam Antidepressant - sertraline 25mg, fluoxetine 10mg, citalopram 10mg Biofeedback training ``` Atypical antipsychotic Aripiprazole 2mg Quetiapine 25mg lanzipine 2.5mg Risperidone 0.5mg ``` ECT

Answer 301

CONVERSION Between 50% and 90% of patients with conversion disorder exhibit short-term resolution of symptoms after reassurance, but up to 25% of these responders relapse or develop new conversion symptoms over time. Favourable prognostic indicators for patients with conversion disorder include acute onset of symptoms, precipitation by a well-defined stressful event, good premorbid health, and absence of psychiatric or neurological comorbidities SOMATIC Reported remission rates range from very low (<10%) [116] to a 50% recovery within 1 year. Patients with many somatic symptoms, anxiety or depression, and old age or marked impairment were more likely to have persistent symptoms.

Answer 302

Depression Anxiety Suicidal ideation Substance abuse

Answer 303

Conversion and somatic symptom disorders

Answer 304

Conversion and somatic symptom disorders

Answer 305

Conversion and somatic symptom disorders

Answer 306

Acute sinusitis (also commonly known as acute rhinosinusitis) is a symptomatic inflammation of the mucosal lining of the nasal cavity and paranasal sinuses, where clinical symptoms have been present for 4 weeks or less. It can be caused by either a viral or a bacterial infection. Majority of cases in adults and children are of viral aetiology. Duration of symptoms more than 10 days often indicates bacterial cause. Imaging is not required for diagnosis unless complications are suspected. Condition is usually self-limiting; however, symptomatic therapy is recommended. Antibiotics are only recommended in select patient groups (e.g., immunocompromised or with severe disease).

Answer 307

16% of adults 0.5-13% of viral -> bacterial 13% of children by age 3 F>M School-age children on average contract 6 to 8 upper respiratory tract infections per year, and of these, 5% to 10% will be complicated by sinusitis.

Answer 308

The most common cause of acute sinusitis is a viral infection. he three most common bacteria are Streptococcus pneumoniae (20% to 43% of cases), Haemophilus influenzae (22% to 35% of cases), and Moraxella catarrhalis (2% to 10% of cases). M catarrhalis is less common in the adult population.

Answer 309

STRONG Viral URTI Allergic Rhinitis WEAK GORD - Gastroesophageal reflux into the nasopharynx can cause symptoms that may be mistaken for sinusitis. In the paediatric population, it is associated with chronic sinusitis but does not contribute to acute sinusitis.

Answer 310

``` COMMON <10 day Sx (viral) >10 days <4w (bacterial) Symptoms that worsen after an initial improvement Purulent nasal discharge Blocked nose Swollen septum Facial pain/pressure ``` UNCOMMON Severe symptoms at onset Dental pain (acute maxillary sinusitis) ``` Other COMMON Cough Myalgia Sore throat Hyposmia Oedematous turbinate ``` UNCOMMON Fever

Answer 311

Suspected Viral: Supportive Antipyretic: paracetamol/ibuprofen Decongestant eg pseudoephedrine Intranasal corticosteroid possible: mometasone nasal Decongestant: Ipatropium nasal Saline nasal irrigation Mucolytic: Guaifenesin BACTERIAL - amoxicillin - amoxicillin/clavulanate - clindamycin

Answer 312

Clinical diagnosis IF refractory to Rx/immunocompromised then nasal endoscopy possible Sinus culture

Answer 313

In general, acute sinusitis is a self-limiting disease and generally resolves within 1 month. However, the use of antibiotics in appropriately selected patients may limit the length and severity of symptoms.

Answer 314

Complications are more commonly seen in the paediatric population, and occur due to direct extension of the infection into neighbouring structures. Orbital spread of infection with orbital cellulitis or orbital abscess represent the most common complications. Intracranial spread of infection resulting in meningitis or abscess is much less common. Cavernous sinus thrombosis

Answer 315

Acute sinusitis

Answer 316

Acute otitis externa (AOE) is defined as diffuse inflammation of the external ear canal, which may also involve the pinna or tympanic membrane. It is a form of cellulitis that involves the skin and subdermis of the external auditory canal, with acute inflammation and variable oedema. It is most commonly caused by bacterial infection. The diagnosis of AOE requires the presence of rapid onset (generally within 48 hours) of symptoms within the past 3 weeks, coupled with signs of ear canal inflammation.

Answer 317

AOE has a lifetime incidence of 10%. Peak 7-12 yo

Answer 318

Most commonly caused by bacterial infections. It is often polymicrobial, but the most common pathogens are Pseudomonas aeruginosa (20%-60% prevalence) and Staphylococcus aureus (10%-70% prevalence). Other aetiologies are idiopathic, trauma (from scratching, aggressive cleaning), chemical irritants, allergy (most commonly to antibiotic ear drops such as neomycin), high-humidity conditions, swimming, or skin disease (allergic dermatitis, atopic dermatitis, psoriasis).

Answer 319

``` STRONG External auditory canal obstruction High humidity Warmer temperatures Swimming Local trauma Allergy Skin diseas DM Immunocompromised Prolonged use topical antibacterials ``` WEAK Chemical irritants

Answer 320

``` COMMON RFs Ear pain Tragal tenderness Ear canal swelling/erythema Otorrhoea Aural fullness Itching Dec hearing Erythematous timpanic membrane ``` UNCOMMON Granulation tissue in ear canal - malignant otitis externa

Answer 321

Pneumatic Otoscopy - Normal (unless also otitis media) Typanometry - N (unless also otitis media) Ear culture - if failed response

Answer 322

Antibacterial drops ciprofloxacin, can include hydrocortisone too or acetic acid Refractory -> oral cipro Fungal -> acetic acid or tolnaftate topical Malignant/necrotising = needs debridement

Answer 323

Patients with uncomplicated diffuse otitis externa usually respond to treatment. Between 65% and 90% of patients have clinical resolution within 7 to 10 days, regardless of agent used. The mortality rate of malignant otitis externa has decreased over the years from 50% to 0%-15%.

Answer 324

Contact dermatitis Cranial nerve palsy (facial-> usually malignant/./nec otitis ext) Osteomyelitis

Answer 325

otitis externa

Answer 326

otitis externa

Answer 327

otitis externa

Answer 328

Acute otitis media (AOM) is an infection involving the middle ear space and is a common complication of viral respiratory illnesses. May present with otalgia, irritability, decreased hearing, anorexia, vomiting, or fever, usually in the presence of an ongoing viral respiratory infection. Physical examination will reveal a bulging, opacified tympanic membrane with decreased mobility. The membrane may be white, yellow, pink, or red. Diagnosis is generally made with conventional otoscopy. Additional tests might include pneumatic otoscopy or tympanometry to confirm the presence of an effusion. Treatment includes pain control with analgesics and might include antibiotics. Complications include perforation of the tympanic membrane and, rarely, mastoiditis, seventh cranial nerve palsy, or sigmoid sinus thrombosis.

Answer 329

More than 80% of children experience at least one episode of AOM before the age of 2 years with a peak incidence between 6 and 18 months. Children with anatomical anomalies (e.g., cleft palate, cleft uvula) or immunological deficiencies encounter more AOM than their peers. Environmental risk factors include childcare attendance, exposure to older siblings, exposure to tobacco smoke, absence of breastfeeding, bottle feeding in a supine position, and dummy use. A higher incidence among boys, children with a family history of AOM, and certain ethnic groups (Native Americans and Native Alaskans) suggests a genetic susceptibility.

Answer 330

``` STRONG Nursery Older siblings Young age FHx Absence of breast feeding Supine feedings Low socio-econ Craniofacial anomaly Immunological deficiency ``` WEAK Male Dummy use Env tobacco exposure

Answer 331

Respiratory viruses account for most cases of otitis media and are self-limiting. Co-infections of the middle ear with a virus and a bacterium demonstrate the role that both play in the development of acute, suppurative otitis media or pus drum. The most common bacteria responsible for AOM are Streptococcus pneumoniae (approximately 40%), non-typable Haemophilus influenzae (25% to 30%), and Moraxella catarrhalis (10% to 15%). Unfortunately, an aetiological diagnosis in a clinic setting is not readily feasible.

Answer 332

``` COMMON Otalgia Preceding URTI Bulging tympanic membrane Myringitis Irritability Sleep disturbance Fever ``` UNCOMMON Decreased appetite

Answer 333

Clinical Typanometry - not required but - flat (B) curve (low compliance)

Answer 334

Non-allergic rhinitis (NAR) refers to a group of chronic rhinitis sub-types that are not caused by allergy or infection. At least eight sub-types have been proposed, including vasomotor rhinitis (VMR [also known as 'autonomic rhinitis', 'non-allergic rhinopathy', and 'idiopathic non-allergic rhinitis']), non-allergic rhinitis with eosinophilia syndrome (NARES), atrophic rhinitis, senile rhinitis, gustatory rhinitis, drug-induced rhinitis, hormonal rhinitis, and occupational rhinitis. VMR is the most common sub-type. To establish a definitive diagnosis of NAR, all other chronic rhinitis syndromes should be properly considered and excluded. Environmental tobacco smoke, perfumes and fragrances, as well as temperature and barometric changes may aggravate symptoms in NAR, but specific IgE responses by skin or serological testing are all negative. The presence of eosinophils in the nasal mucosa in NARES distinguishes it from other sub-types of NAR. It is a chronic condition that should be distinguished from a common cold, which can manifest with symptoms of NAR but is self-limiting. Traditional triggers such as cat or dog exposure should be absent. Symptoms and examination findings can overlap between perennial allergic rhinitis and non-allergic rhinitis (NAR), with nasal turbinates swollen and beefy red, scant mucus, cobblestoning of posterior pharynx from chronic post-nasal drainage, and retraction of tympanic membranes indicating congestion. A diagnosis of NAR requires negative specific IgE responses by skin or serological testing. Differentiation between non-allergic rhinitis with eosinophilia syndrome and other sub-types of NAR is determined by the presence or absence of eosinophilia in the nasal passage. Treatment is based on symptoms, and all patients should be counselled on avoidance of triggers. Symptom control in NAR requires a balance between the control of excess secretions and over-suppression. First-line treatments include intranasal corticosteroids, intranasal antihistamines, and intranasal ipratropium. Structural problems or other complicating conditions should be ruled out with imaging if initial therapeutic trials fail to relieve symptoms. Possibilities include osteomeatal complex obstruction that occurs as a result of chronic inflammation or recurrent infections, severe nasal septal deviation and nasal polyposis, or, less commonly, tumour or foreign body.

Answer 335

It has been proposed that, in response to local mucosal injury, a compensatory response might over-amplify axonal release of neuropeptides, which then initiate the vascular and glandular responses characteristic of NAR. The most popular mechanism postulated for vasomotor rhinitis patients has been an autonomic imbalance between the sympathetic and parasympathetic nervous system, resulting in parasympathetic hyperactivity leading to nasal congestion and drainage. Parasympathetic responses are largely responsible for increased blood flow leading to engorgement of venous sinusoids, plasma extravasation, and increased release of secretions of mucus-secreting cells. Otherwise, as a diagnosis based on exclusion, the aetiological factors in NAR are also largely negative risk factors. It is more likely to be the diagnosis in those with no family history of allergies, onset of symptoms after age 35, no seasonal symptoms, and no symptom exacerbation by cats. It is positively associated with triggers such as perfumes/fragrances and pot pourris.

Answer 336

Prev = 17-52% Prevalence in children is unknown but is probably under-diagnosed due to the difficulty of children recognising and communicating signs and symptoms.

Answer 337

STRONG Symptom onset >35y No exacerbation with cats Neg FHx of allergy ``` WEAK No seasonal changes Fragrance exposure Smoke exposure Exposure to hairspray Exposure to pot pourris Change in temperature Barometric changes High oestrogen state BBlocker use Intranasal drug abuse ```

Answer 338

``` COMMON Presence of RFs Nasal congestion PN-drip Rhinorrhoea Sore throat Ear plugging Sinus headaches Postural change triggers Sneezing ``` UNCOMMON Purulent discharge Bilateral symptoms Sinus pain

Answer 339

Allergy skin testing - Negative - exclude AR Serological specific IgE testing - Negative Consider Nasal provocation test - symptoms return

Answer 340

Trigger avoidance Intranasal antihistamine - Azelastine BD Saline nasal irrigation Intranasal corticosteroid COMBINATION Oral antihistamines Intranasal ipatropium Surgery possible but rarely done - very very final option: CO2 turbinectomy and partial laser turbinectomy

Answer 341

Decongestant SEs: insomnia, tachycardia, increased blood pressure, and urinary retention and can aggravate underlying cardiac conditions headache Recurrent sinusitis SEs nasal corticosteroids: bleeding/ulceration SEs of atihistamines: excessive dryness and can aggravate benign prostatic hypertrophy Eustacian tube dysfunction

Answer 342

Decongestant SEs: insomnia, tachycardia, increased blood pressure, and urinary retention and can aggravate underlying cardiac conditions headache Recurrent sinusitis SEs nasal corticosteroids: bleeding/ulceration SEs of atihistamines: excessive dryness and can aggravate benign prostatic hypertrophy Eustacian tube dysfunction

Answer 343

Acute tonsillitis is an acute infection of the parenchyma of the palatine tonsils. This definition does not include tonsillitis as part of infectious mononucleosis, although tonsillitis may occur in isolation or as part of a generalised pharyngitis. The clinical distinction between tonsillitis and pharyngitis is unclear in the literature, and the condition is often referred to simply as "acute sore throat". Can be difficult to distinguish clinically from viral pharyngitis. Most patients do not seek medical help. Most cases resolve spontaneously and do not require antibiotics. Antibiotics are used to treat group A beta-hemolytic streptococcal infection. There is some evidence that tonsillectomy may be effective in selected children with recurrent severe acute tonsillitis. _______________________ Centor criteria [18] The Centor criteria give an indication of the likelihood of a sore throat being due to bacterial infection. The criteria are: ``` Tonsillar exudate Tender anterior cervical adenopathy Fever over 38°C (100.5°F) by history Absence of cough. If 3 or 4 of Centor criteria are met, the positive predictive value is 40% to 60%. The absence of 3 or 4 of the Centor criteria has a fairly high negative predictive value of 80%. ```

Answer 344

In UK general practice, recurrent sore throat has an annual incidence of 100 per 1000 population. Acute tonsillitis is more common in children between the ages of 5 and 15 years. The prevalence of bacterial tonsillitis, specifically group A beta-haemolytic streptococci (GABHS), is 15% to 30% of children with sore throat and 5% to 15% of adults with sore throat. Acute tonsillitis is most commonly seen in winter and early spring in temperate climates, although it may occur at any time of the year.

Answer 345

Tonsillitis is usually viral; it is most commonly caused by the rhinovirus, followed by the coronavirus, and the adenovirus. Less commonly it is caused by the influenza virus, the parainfluenza virus, enteroviruses, or herpes viruses. In tonsillitis associated with infectious mononucleosis, the most common infective agent is the Epstein-Barr virus. Common bacterial pathogens include beta-haemolytic and other streptococci, with the most common being group A beta-haemolytic streptococci (GABHS). GABHS is responsible for 15% to 30% of all cases of acute tonsillitis in children aged between 5 and 15 years and for 5% to 10% of all tonsillitis in adults. Group C beta-haemolytic streptococci are the cause in about 5% of patients. Rarer bacterial causes include Mycoplasma pneumoniae and Neisseria gonorrhoeae , which can be the cause in sexually active adolescents (particularly those engaging in oral-genital sex).

Answer 346

WEAK Age 5-15 Contact with infected poeple

Answer 347

``` COMMON RFs presence Pain on swallowing Fever >38 Exudate: particularly when it is caused by group A beta-haemolytic streptococci Sudden onset Sx Tonsillar erythema/enlargement Lymphadenopathy ``` ``` Associated with infective process: Headache Abdominal pain N+V Presence cough/runny nose ```

Answer 348

Throat culture - not nec routine Rapid strep antigen test - identification of group A beta-haemolytic streptococci (GABHS) [lower sensitivity but fast] WCC - rule out infectious mononucleosis - A raised WBC count with neutrophilia is suggestive of a bacterial infection, whereas a raised WBC count with lymphocytosis and atypical lympocytes is suggestive of infectious mononucleosis. Heterophile antibodies - inf mono Vaginal and cervical, or penile, and rectal cultures - if suspect N gon Persistent/recurrent symptoms - check HIV

Answer 349

Not due to strep - manage with analgesics para/ibu/aspirin/naproxen If Group A strep: Analgesia + ABx: Ben-Pen, amoxicillin, azithromycin, clarithromycin SEVERE swelling + group A - Consider corticosteroids Recurrent episodes: Consider tonsillectomy

Answer 350

Acute tonsillitis is an acute, self-limiting infective condition that normally resolves completely within 1 week with no sequelae. In vulnerable people (e.g., infants, very old people, immunosuppressed or immunocompromised patients), tonsillitis may run a more severe course. Antibiotics and/or admission to hospital for a limited period of time may be advisable. Very rarely (but more commonly in developing countries) acute tonsillitis may be associated with significant suppurative complications, such as neck abscess, and non-suppurative complications, such as rheumatic fever or acute glomerulonephritis.

Answer 351

Scarlet fever: A diffuse erythematous rash, which is a manifestation of delayed-type skin reactivity to pyrogenic exotoxin (erythrogenic toxin, usually types A, B, or C) produced by Streptococcus species. Characteristically the rash blanches with pressure and has multiple small papules. It generally starts on the head and neck, and is associated with circumoral pallor and a strawberry tongue. It subsequently spreads to the trunk, sparing the palms and soles, and is more marked over the skin folds. ``` Acute sinusitis Acute Otitis media Peritonsillar / neck abscess Acute rheumatic fever Acute post-streptococcal glomerulonephritis (manifesting with haematuria and oedema) Streptococcal toxic shock syndrome ``` Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococci (PANDAS) syndrome - not on DSM but has been described

Answer 352

Epiglottitis is a cellulitis of the supraglottis with the potential to cause airway compromise, and should be treated as a surgical emergency until the airway is examined and secured. Pertinent diagnostic criteria include the classic 'tripod' position of the patient, drooling, high fever, and a toxic appearance. A cellulitis of the supraglottis that may cause airway compromise. An airway emergency, especially in children, and precautionary measures must be taken. Epiglottitis is classically described in children aged 2 to 6 years of age; however, it may manifest at any age, including in newborns. It may now be more common in older children and adults due to the Haemophilus influenzae type B (Hib) vaccine. The most common signs are rapid onset of high fever, sore throat, inability to control secretions, classic tripod positioning, difficulty breathing, and irritability. Adults may have a more indolent presentation and may not require airway intervention (only about 20% of adults require intubation whereas most children do). Cooperation between the otolaryngologist, paediatrician, or emergency department physician and anaesthetist is crucial. No action should be taken that could stimulate a child with suspected epiglottitis, including examination of the oral cavity, starting intravenous lines, blood draws, or even separation from a parent. Similar caution is required in fulminant acute epiglottitis in adults. Diagnosis is made on clinical grounds, and laboratory or other interventions should not preclude or delay timely control of the airway in a suspected case of epiglottitis. Once the airway has been secured and antibiotics have been initiated, the condition usually resolves rapidly. Vaccination does not preclude the possibility of epiglottitis or even the possibility of epiglottitis from Haemophilus influenzae.

Answer 353

Most 3-5yo | 4.9 per 100k

Answer 354

Infection of the supraglottis: classically with Haemophilus influenzae , but also from other potential pathogens, including Streptococcus pneumoniae , Staphylococcus aureus , and MRSA. Other rare bacterial pathogens such as Pasteurella multocida have been reported. Less commonly, viral pathogens such as parainfluenza have been implicated as aetiological agents. Another rare aetiology of epiglottitis is fungal infection. Several reports of candidial epiglottitis have been reported. Traumatic: a mechanical insult to the epiglottis can occur, most commonly from caustic ingestion or thermal injury, which may result in marked oedema and inflammation of the epiglottis.

Answer 355

STRONG No vaccination with H influenza vaccine Immunocompromise Middle age

Answer 356

``` COMMON RFs No vaccination (Hib vacc) Sore throat Dysphagia Drooling (failure to swallow) Toxic appearance Acute distress Fever Tripod position Difficulty breathing ``` ``` OTHER COMMON Decreased oral intake Muffled voice Stridor Irritability ```

Answer 357

Laryngoscopy - swelling of supraglottic structures Lateral neck radiograph - markedly enlarged epiglottis, referred to as a 'thumbprint sign' Can do: Cultures of blood/supraglottis (epiglottis) - positive cultures - NB often not possible as it's more important to secure airway

Answer 358

1. SECURE AIRWAY + O2 2. IV Abx - cefotaxime/ceftriaxone 3. Dexamethasone orally 4. Inhaled adrenaline 5. Still require ABx when stable and extubated

Answer 359

Mediastinitis Cellulitis of neck Pneumonia - post intubation

Answer 360

Epiglottitis is an acute condition and, though very severe (especially so in children), if the patient is treated appropriately the prognosis is excellent for a quick and complete recovery. Other than in unvaccinated or immunocompromised individuals, there is no theoretical increased risk for future episodes of this disease. There are numerous sequelae of not treating an infectious process that causes airway obstruction. These include: death, mediastinitis, neck space infection, necrotising fasciitis, pneumonia, aspiration, and asphyxiation.

Answer 361

Acute pharyngitis is characterised by the rapid onset of sore throat and pharyngeal inflammation (with or without exudate). Absence of cough, nasal congestion, and nasal discharge distinguishes bacterial from viral aetiologies. It can be caused by a variety of viral and bacterial pathogens, including group A Streptococcus (GAS), as well as fungal pathogens ( Candida ). Bacterial pharyngitis is more common in winter (or early spring), while enteroviral infection is more common in the summer and autumn. Generally a self-limited condition with resolution within two weeks. Hallmarked by acute onset of sore throat; the absence of cough, nasal congestion and discharge suggests a bacterial aetiology. Rapid antigen detection tests allow immediate point-of-care assessment of group A Streptococcus (GAS) pharyngitis. The goal of treatment of GAS is to prevent acute rheumatic fever, reduce the severity and duration of symptoms, and prevent transmission. Acute pharyngitis is generally a self-limited condition with resolution within two weeks. Infected individuals are not, however, immune to reinfection with most aetiological pathogens. The only situation in which antibiotic prophylaxis to prevent GAS infections is recommended is for individuals with a history of rheumatic fever.

Answer 362

Bacterial pharyngitis is more common in winter (or early spring), while enteroviral infection is more common in the summer and autumn. Pharyngitis is most common in school-aged children during the winter months. Seasonal colonisation with group A Streptococcus (GAS) reaches its peak (up to 20% of children) during this season. GAS pharyngitis is the focal point of clinical interest in pharyngitis, as the main goal of therapy is prevention of rheumatic fever associated with this organism. GAS pharyngitis, however, represents less than one third of all cases of acute pharyngitis.

Answer 363

Acute sore throat is most commonly due to viral organisms or group A Streptococcus (GAS). Common viral causes include the Epstein-Barr virus (mononucleosis), adenoviruses, enteroviruses, influenza A and B, and parainfluenza. GAS pharyngitis is spread from person to person, especially in the winter, via the respiratory droplet route; however, it represents less than one third of all cases of acute pharyngitis. Other streptococci that can cause pharyngitis include groups B, C, and G streptococci. Other bacteria found rarely in adolescents with pharyngitis include Mycoplasma species and Arcanobacterium haemolyticum . HIV, chlamydia, or gonorrhoea may be implicated as a cause of acute pharyngitis in sexually active adolescents or sexually abused children. In low- and middle-income countries, diphtheria and measles are also prominent causes of acute pharyngitis. Tularaemia may be a cause if there is a history of eating meat from undomesticated animals. Candida infection is common as a source of sore throat in immunocompromised individuals, including those undergoing chemotherapy or oropharyngeal irradiation for cancer.

Answer 364

``` COMMON Nasal colonisation with Group A Strep GAS infected contact Sexual activity/abuse Ingestion of non-domestic meats (Tularaemic ulceroglandular pharyngitis is acquired from the ingestion of partially cooked wild animal meat.) Immunocompromised Inhaled corticosteroids Lack of immunisation ``` WEAK Irradiation

Answer 365

``` COMMON RFs Child/adolescent Winter/spring (Bacterial) Summer/autumn (enteroviral) Rhinorrhoea, nasal congestion and cough (viral) Sore throat Pharyngeal exudate (GAS) Adenopathy [cervical] Fever >37 Headache N+V + Abdo pain ``` MEASLES: Conjunctivitis Koplik spots Macropapular rash UNCOMMON Scarlatiniform rash Pharyngeal ulceration (in tularaemia)

Answer 366

Rapid antigen test for Group A strep - can be +ve/neg IF NEG - do throat swab culture - test growth of chalmidya/gon if sexually active Consider monospot for EBV heterophile ABs

Answer 367

Supportive - paracetamol - ibuprofen - lidocaine topical 2% In instances when the rapid test for GAS proves negative, a reasonable approach is no antibiotics at all, with a next day follow-up if the throat culture is positive Confirmed GAS - ben-pen - pheno-pen - amox - azithromycin Recurrence: Tonsillectomy Infectious mononucleosis - prednisolone orally Candida - antifungal - clotrimazole or fluconazole Diptheria - Diptheria antitoxin [equine]

Answer 368

Antibiotic therapy of group A Streptococcus (GAS) pharyngitis results in a lessening of symptom intensity and duration, and prevents the long-term complication of rheumatic fever. Symptom resolution is within one to a few days. Infected individuals are not, however, immune to reinfection. Complications of viral pharyngitis are extremely uncommon. Symptoms usually go away within 7 to 10 days.

Answer 369

pharyngitis

Answer 370

pharyngitis

Answer 371

pharyngitis

Answer 372

Epiglottitis

Answer 373

Epiglottitis

Answer 374

Tonsillitis

Answer 375

Tonsillitis

Answer 376

Non-allergic rhinitis

Answer 377

Laryngitis refers to inflammation of the larynx. This can lead to oedema of the true vocal folds, resulting in hoarseness. Laryngitis can be acute or chronic, infectious or non-infectious. Accompanying signs of infectious laryngitis include odynophagia, cough, fever, and respiratory distress. The most common variant is acute viral laryngitis, which is self-limiting and usually related to an upper respiratory infection. Bacterial laryngitis can be life-threatening. Haemophilus influenzae is one of the most frequently isolated bacteria. Other causes include tuberculosis (TB), diphtheria, syphilis, and fungi. Non-infectious causes of laryngitis include reflux laryngitis, vocal strain and chronic irritant laryngitis. Laryngitis is inflammation of the larynx, which can lead to oedema of the true vocal folds. Causes may be infectious or non-infectious (e.g., vocal strain, reflux laryngitis, chronic irritative laryngitis). Generally clinically diagnosed. Symptoms of acute disease, most commonly hoarseness, generally arise over a period of <7 days, are usually preceded by a viral upper respiratory infection (URI), and are ordinarily self-limiting. Patients may present with airway distress and high fever. Exudative tonsillopharyngitis with fever and anterior cervical lymphadenitis is highly suggestive of a bacterial origin. The airway should be assessed first. Diligence and promptness are key, as they can be lifesaving. Chronic laryngitis presents with hoarseness lasting >3 weeks. A thorough evaluation and specialist consultation should be obtained, because symptoms are similar to those of laryngeal malignancy. Treatment for viral laryngitis consists of voice rest and hydration. For bacterial causes, antibiotics are used along with supportive measures. Vocal strain is managed with voice therapy and vocal hygiene. In more pronounced cases, especially in children in whom the larynx is already small, oedema may lead to narrowing of the airway and airway compromise.

Answer 378

Accurate figures with regard to acute laryngitis are difficult to collect, because it is generally unreported. Sore throat accounts for 1% to 2% of all patient visits to a primary care physician in the US. This accounts for approximately 7.3 million annual visits for children and 6.7 million for adults. Viral agents tend to have annual periods of peak prevalence, such as rhinovirus infections in autumn and spring, and influenza virus infection epidemics generally from December to April. TB laryngitis is historically a sequela of pulmonary TB, but recent cases without pulmonary involvement have been encountered. TB is the most common granulomatous disease of the larynx. Fungal infections: Generally caused by Candida albicans , Blastomyces dermatitis , Histoplasma capsulatum , and Cryptococcus neoformans . Non-infectious causes of laryngitis include the following: Irritant laryngitis (e.g., due to toxic exposure) Allergic Traumatic, especially due to heavy vocal use.

Answer 379

``` STRONG Hx URTI Incomplete/absent Haem Influenza (HIB) vaccine Incomplete/absent diptheria vaccine Contact with infected Travel to endemic TB/diptheria HIV/immunocompromise Residence in nursing home Inhaled corticosteroid/prolonged ABx use Heavy vocal use Tobacco use ```

Answer 380

Infectious laryngitis may be caused by viral, bacterial, or fungal infection. Virus infection: Generally the most common cause of infectious laryngitis Rhinovirus is the most common virus that is aetiologically associated with URIs Other causative viruses include parainfluenza virus, respiratory syncytial virus, influenza, and adenoviruses Parainfluenza viruses type 1 and type 2, as well as influenza viruses, are the most common pathogens responsible for croup. Bacterial infection: Pathogens consist of Moraxella catarrhalis , Haemophilus influenzae , Streptococcus pneumoniae , Staphylococcus aureus , and Klebsiella pneumoniae Epiglottitis is most frequently caused by Haemophilus influenzae type B Diphtheria is caused by Corynebacterium diphtheriae . Occasional cases may be caused by Corynebacterium ulcerans Although atypical forms of acid-fast bacilli can play a role, most TB infections are caused by Mycobacterium tuberculosis Syphilis is a less common cause.

Answer 381

``` COMMON RFs presence Hoarseness - most characteristic symptom of laryngitis. Dysphagia Sore throat Odynophagia Cough Hyperaemia of oropharynx Hx heavy vocal cord use GORD ``` UNCOMMON Oropharyngeal white-grey exudates - DIPTHERIA ``` OTHER COMMON / Concomitant Rhinitis Fatigue/malaise Fever Enlarged tonsils Enlarged/tender cer nodes PNDrip Dyspnoea ``` OTHER UNCOMMON / Concomitant WL - TB Tonsillopharyngeal exudate: bacterial Acute resp distress - think acute epiglottitis, croup, or diphtheria Drooling - epiglottitis Stridor - acute epiglottitis, croup, or diphtheria.

Answer 382

1st Laryngoscopy - mainstay of diagnosis - Performed if the patient presents initially to an otolaryngology specialist, but most primary care physicians are not experienced in the technique and diagnose most cases of viral laryngitis clinically ``` CONSIDER Biopsy if suspect TB Cultures - if bacterial Nasal swab - bacterial Rapid antigen - GAStrep Other TB Ix if suspected ```

Answer 383

IF AIRWAY COMPROMISE - Stabilise NO SUSPICION DIPTHERIA = give corticosteroid SUSPICION DIPTHERIA = isolate and give BENPEN + diptheria antitoxin ACUTE VIRAL - Supportive - Guaifenesin / codeine ACUTE BACTERIAL - Can give phenoxybenz - Guaifenesin / codeine TB - referral + TB therapy VOCAL REST FUNGAL -> refer otolaryngologist

Answer 384

Airway compromise Formation of true vocal folds Largyneal stenosis (TB) Muscle tension dysphonia

Answer 385

Acute infectious laryngitis This is often a self-limiting disease. With adequate voice rest and hydration the voice will return to normal within days. Continued extensive voice use can result in injury to the true vocal folds and formation of pathologies. It may also lead to the development of compensatory behaviour and can result in muscle tension dysphonia. Therefore, the patient needs to be counselled on the importance of voice rest and hydration. Diphtheria Patient age and immunisation status are important factors in terms of likely prognosis. Elderly and very young patients generally have a poorer prognosis, whereas past history of immunisation usually leads to a better prognosis. Any delay in administration of diphtheria antitoxin is more likely to result in associated toxic complications. Therefore, it is important to give diphtheria antitoxin as soon as possible. Tuberculosis Once appropriate treatment is started, laryngeal lesions should regress. If left untreated, progressing lesions can cause fibrosis, scarring, and, as a result, laryngeal stenosis. This may necessitate tracheotomy.

Answer 386

Laryngitis

Answer 387

Laryngitis

Answer 388

Laryngitis

Answer 389

Pertussis (also known as whooping cough) is an upper respiratory tract infection (URTI) characterised by a severe cough. Bordetella pertussis is the typical aetiological agent. Patients can be infectious for several weeks if it is left untreated. B pertussis will spontaneously clear from the nasopharynx within 3 to 4 weeks from the onset of the cough in about 80% to 90% of patients if untreated; however, infants who have not been vaccinated or treated can remain culture-positive for more than 6 weeks. Other Bordetella species that may rarely cause pertussis or pertussis-like cough include B parapertussis , B bronchiseptica , or B holmesii ; these species are not vaccine-preventable. In China, pertussis is known as the '100-day cough'. With the resurgence of pertussis in highly vaccinated populations, the disease continues to be a public health and medical concern. Three identifiable stages typical in childhood cases: catarrhal, paroxysmal, and convalescent. Initial symptoms may be similar to a cold, with rhinorrhoea and lacrimation, or a dry cough followed by episodes of severe coughing. Fever may be absent or low-grade. Inspiratory whooping is a characteristic symptom in children but may be absent in infants, adolescents, and adults. Culture of the bacterium Bordetella pertussis from nasal secretions can confirm the diagnosis, especially early in the course of the disease. A negative culture does not exclude the diagnosis. Other diagnostic tests include polymerase chain reaction (PCR) and serology. Macrolide antibiotics are the preferred first-line agent for treatment and prophylaxis. Universal childhood immunisation with the acellular pertussis vaccine is advised. Booster vaccination is recommended for pregnant women. In the US, booster vaccinations are also recommended for non-pregnant adults. Cocooning is a prevention strategy to protect newborns and infants.

Answer 390

Despite being a vaccine-preventable disease, pertussis remains a fairly common condition in developed countries that have longstanding immunisation programmes with high vaccine uptake, and it is still considered a public health concern. Hypotheses that may explain the resurgence of pertussis include: the theoretical evolving virulence of B pertussis , waning vaccine-conferred immunity, waning herd immunity or incomplete booster vaccinations, the introduction of acellular vaccines, and increased physician awareness of pertussis in adolescents and adults. In England in 2016, there were 5945 confirmed cases of pertussis, a rate of 11 per 100,000, an increase from previous years with 4190 cases in 2015 and 3388 cases in 2014. However, in 2012, there were 9367 confirmed cases of pertussis in England (a rate of 18 cases per 100,000). This was considerably higher than the cases reported in 2011 (1053; rate of 2 cases per 100,000). In the UK, US, and other developed countries, an epidemic outbreak of pertussis typically occurs every 3 to 4 years.

Answer 391

B pertussis is the typical aetiological agent. Other Bordetella species that may rarely cause pertussis or pertussis-like cough include B parapertussis , B bronchiseptica , or B holmesii ; these species are not vaccine-preventable

Answer 392

STRONG Age < 6months - Infants under 6 months of age are not fully vaccinated and so are at increased risk. The series of primary vaccines for pertussis starts at 2 months and ends at 6 months. Baby born to mother infected by >34weeks No / incomplete immunisation School teachers / healthcare workers - As an adult, immunity can decrease, especially if the last booster vaccine has not been administered in previous 5 years. Close contact with infected person

Answer 393

``` COMMON RFs Cough (begins 1-2w post infection) Inspiratory whooping Rhinorrhoea - early stages Post-tussive vomiting / gagging ``` OTHER COMMON Sneezing Absent/low grade fever Decreased appetite UNCOMMON Apnoea (baby)

Answer 394

Culture of a nasopharyngeal aspirate or swab from the posterior nasopharynx - Definitive diagnostic test, with a specificity of 100%. May be positive for B pertussis PCR naso-pharyngeal aspirate - Sensitivity of 94% and a specificity of 97% Serology - IF NO VACCINE - Because a vaccination can induce antibodies (i.e., IgM, IgA, and IgG antibodies), serological assays cannot differentiate infection from vaccine response FBC - inc WCC

Answer 395

INFANT <1month Azithromycin / clarithromycin Infants aged under 1 month who receive a macrolide should be monitored for hypertrophic pyloric stenosis (IHPS) DONT GIVE ERYTHROMYCIN >1month / non-preg Azithromycin / clarithromycin / erythromycin base If given after 3 weeks of onset of cough, treatment may have limited benefit.

Answer 396

Infants <1 year in age account for the majority of deaths from pertussis in the US. The mortality rate of hospitalized infants is 1%. In older children and adults, the prognosis is generally very good. It may take a few months for the cough to entirely resolve. Most healthy older children and adults will make a full recovery. Those with comorbid conditions, however, have a higher risk of morbidity and mortality. Because infection in newborns and infants can be severe, they need careful monitoring to avoid complications. The hospitalisation rate of adults in the US is about 3%. The rate of developing pneumonia is up to 5% and rib fracture is up to 4%.

Answer 397

``` Pneumonia Seizure Apnoea/brady Rib fracture Encephalopathy Otitis media ```

Answer 398

pertussis / whooping cough

Answer 399

pertussis / whooping cough

Answer 400

Syncope is a syndrome characterised by a relatively sudden, temporary, and self-terminating loss of consciousness, associated with the inability to maintain postural tone, with rapid and spontaneous recovery. The causes vary widely from patient to patient, but they have a common underlying pathophysiology. The transient loss of consciousness with syncope is the result of a temporary inadequacy of cerebral nutrient flow, most often triggered by a fall in systemic arterial pressure below the minimum needed to sustain cerebral blood flow. Neurally mediated reflex syncope (NMRS) refers to a group of related conditions or scenarios in which symptomatic hypotension occurs as a result of neural reflex vasodilation and/or bradycardia. Vasovagal syncope (VS) refers to a particular type of NMRS also known as the common faint. Neurally mediated reflex syncope (NMRS) refers to a group of related conditions or scenarios in which symptomatic hypotension occurs as a result of neural reflex vasodilation and/or bradycardia. Vasovagal syncope (VS) refers to a particular type of NMRS also known as the common faint. VS has many manifestations and is generally considered to encompass faints triggered by emotional upset, fear, and pain, as well as those occurring in less well-defined circumstances. Patient education is the foundation of treatment for most NMRS syndromes, including VS. Patients must be informed that, although reflex faints are almost never life-threatening, they tend to recur (often in clusters), and injury can result if preventive measures are not taken seriously. Strategies for reducing syncope recurrences in the long term comprise 1) physical techniques to improve orthostatic tolerance, 2) pharmacological interventions to prevent depletion of intravascular volume and/or enhance arterial and venous tone, 3) cardiac pacing to avert bradycardia.

Answer 401

Syncope is estimated to account for approximately 1% of accident and emergency department visits in Europe. Prevalence of syncope varies in the population: 15% of children. Vasovagal syncope is the single most common cause of syncope. It tends to peak in frequency in young adults and then again in older people. Unfortunately, in older patients the historical features may be less clear cut, making the diagnosis more difficult to establish. Most studies suggest that women (especially younger women) are more susceptible to vasovagal faints, although reporting bias may play a role, as young men may be less inclined to report such events.

Answer 402

Syncope has many possible causes, and these causes are commonly grouped in 3 main groups: neurally-mediated reflex syncopal syndromes, orthostatic, or cardiovascular. In susceptible people, vasovagal syncope may be triggered by prolonged periods of upright posture; relative dehydration; excessively warm, closed-in environments; or extreme emotions. Common places for these events are churches, restaurants, and long queues.

Answer 403

``` STRONG Hx syncope Prolonged standing Emotional stress Dehydration Preceding episode of nausea / vomiting Preceding episode of severe pain ```

Answer 404

``` STRONG Nausea Light headedness Pallor Diaphoresis Diminished vision/hearing Physical injury Fatigue after episode Palpitations prior Bradycardia at time ```

Answer 405

INITIAL ``` 12 lead ECG - rule out cardiac causes Serum Hb - rule out anaemia BM/BG - rule out hypo BHcG - rule out preg (can cause syncope) Cardiac enzymes - rule out MI D-Dimer - rule out PE serum cortisol - rule out addisons Urea/creatinine - check dehydration ``` ``` OTHER Tilt-table Standing BP Valsalva manouvre Carotid sinus masage - all to rule out alternatives if unclear ```

Answer 406

Education re triggers Rehydration Can give fludrocortisone to aid re-expansion but RAREKY used

Answer 407

Recurrences are common but often occur in clusters. Most therapies have not been studied adequately to ascertain effectiveness for preventing subsequent events. However, data for physical manoeuvre intervention and for the drug midodrine tend to support benefit. In the long term, the mortality risk is very low, but injury is a concern due to recurrent falls, especially in older people

Answer 408

injury/fracture | Haemorrhage 2nd trauma

Answer 409

A self-limiting disease of the femoral head comprising of necrosis, collapse, repair, and re-modelling that presents in the first decade of life and is more commonly seen in boys. The cause is hypothesised to be single or multiple vascular events, followed by re-vascularisation. In later life, it can lead to a painful and poorly functioning hip. The disease was first described independently by Jacques Calvé, Arthur T. Legg, and Georg Perthes in 1910 Patients commonly have a characteristic phenotype of short stature, delayed bone age, and hyperactivity. Although several aetiologies have been proposed, a multi-factorial involvement is most likely. Typically unilateral, though bilateral involvement is present in 10% of cases. Clinical features include a limping gait and hip pain frequently radiating into the thigh, knees, groin, or buttocks. Pain is worse with activities. Treatment is age-dependent. Options include mobilisation and monitoring, non-surgical or surgical containment, or salvage procedures.

Answer 410

Typically, Perthes' disease presents in 4- to 8-year-olds with a mean age of 7 years, although it can affect children between 2 and 12 years of age. It is about 4 or 5 times more common in males than females. Perthes' disease is bilateral in about 10% to 12% of cases. The disease appears very uncommon in black people, though there are no true studies of incidence. Studies of incidence demonstrate that South Asians have 3 times the rate of East Asians, and that Caucasians have 9 times the rate of East Asians. More northerly latitudes, independent of race, appear to have greater disease incidence.

Answer 411

``` STRONG Male 4-8yo Socio-economic deprivation Hypercoagulable states ``` ``` WEAK Urban population Eskimos, Japanese, some central European races Transient hip synovitis Hip joint effusion Passive smoking Skeletal dysplasias Trisomy 21 Congenital defects - Genitourinary tract and inguinal anomalies have been demonstrated to have an association with Perthes' disease. Behaviour disorders - ADHD Endocrinopathy ```

Answer 412

The cause of Legg-Calvé-Perthes' (Perthes') disease is hypothesised to be single or multiple vascular events, followed by re-vascularisation. Although several theories have been proposed over the years, it appears that Perthes' is most likely to be multifactorial.

Answer 413

STRONG RFS Limp - painless limp that can be described as a gluteus medius lurch, though may be antalgic during acutely painful episodes Limited range motion of hip - There is a flexion deformity of the hip in the acute setting. With progression of the disease adduction in flexion, internal rotation, and abduction in extension are limited due to impingement lesions. The later stage of the disease may be characterized by a global reduction in all ranges of motion with associated pain indicative of joint arthritis. ``` OTHER COMMON Short stature Muscle wasting Hyperactivity Trendelenburgs Synovitis ``` ``` UNCOMMON Knee pain Thigh pan Groin buttock pain Asymmetric limb length Minor trauma ```

Answer 414

Bilateral hip x-rays - femoral head collapse and fragmentation; subchondral CONSIDER FBC - N ESR - N / reactively increased CRP - N / reactively increased Bone scintigraphy - cold spot in the affected hip early in the disease process MRI possible

Answer 415

Supportive pain relief - paracetamol 75mg/kg 4-6, max / ibuprofen (10mg/kg 6-8hrly) <5yo 1. Mobilisation + monitoring 2. Non-surgical containment - A dynamic radiographic screening arthrogram allows assessment of the optimal position in which to contain the hip. This position is then maintained in an abduction cast, splint, or brace, or a combination of all 3 where a spica and adductor tenotomy is followed by a period in an abduction brace. 5-7YO Epiphyseal involvement >50% - SURGICAL containment 7-12YO SAME but also: - SALVAGE procedure Salvage options address either the acetabulum to recreate or deepen the socket or aim to improve congruence between the weight-bearing areas by altering the femoral head orientation with a femoral valgus osteotomy. >12 with arthritis Replacement arthroplasty after skeletal maturity

Answer 416

The prognostic variables include femoral head sphericity, congruence with the acetabulum, age at presentation and the geometric extent of the femoral head involvement. Congruence is a more important predictor of future arthritis than femoral head sphericity. In later life, Legg-Calvé-Perthes' (Perthes') disease leads to a painful and poorly functioning hip. More than 50% of patients with Perthes' disease will develop signs of osteoarthritis between their 4th and 5th decades. When girls are affected, involvement of the femoral head is more severe compared with that in boys of the same age. Females also tend to have a more severe involvement than males at a later age. Predictors of poor outcome include recurrent synovitis, lateral subluxation, more than 50% femoral head involvement and a collapsed lateral pillar. Predictors of good outcome include femoral head involvement classified as Catterall group I or II, Salter Thompson group A, Herring sub-types A or B, and children under 7 years of age.

Answer 417

Osteoarthritis LT Limb length inequality LT Stiffness + loss of rotation V

Answer 418

Legg-Calvé-Perthes' disease

Answer 419

Legg-Calvé-Perthes' disease

Answer 420

Legg-Calvé-Perthes' disease

Answer 421

Allergy = a hypersensitivity reaction initiated by immunological mechanisms. This can be IgE mediated [eg peanut] or non IgE mediated [coeliac disease] Hypersensitivity = objectively reproducible symptoms in response to a defined stimulus at a dose which is tolerated by normal people

Answer 422

40% if children have AR, asthma or eczema and up to 6% develop a food allergy Increasing in prevalence in many countries Commonest chronic diseases of childhood, and causes of hospitalisation and school absence Significant morbidity and can be fatal 20 children die from asthma each year 2 from food allergy

Answer 423

Polymorphisms in genes lead to susceptibility Abnormal immune response to harmless stimuli (usually protein) Developing immune system is "sensitised" before the allergic response develops N.B. sensitisation can be occult, EG egg sensitisation from trace amounts in maternal breast milk Only a few stimuli typically account for most allergic disease: Inhalant: dust mite, plant pollen, pet dander, moulds [asthma/AR] Ingestant: nuts, seeds, legumes, cows milk, egg, seafood, fruits Bites/stings, drugs, latex Some proteins may be broken down by cooking: eg apples Early phase: - release of histamine, LTs and PGs - urticaria, angiooedema, sneezing, bronchospasm Late phase 4-6 hrs later - nasal congestion, cough, bronchospasm NB non-IgE mediated = delayed onset of symptoms by 4-6 hrs + more varied clinical picture

Answer 424

Mouth breathing OSA/snoring Allergic salute Pale/swollen inferior turbinates Hyperinflated chest or Harrison sulci from chronic untreated asthma Atopic eczema affecting limb flexures Allergic conjunctivitis: may be prominent creases ie DennieMorgan folds, blue grey discolouration below the lower eyelids Check growth with food allergy - also with corticosteroid Rx

Answer 425

Allergen immunotherapy AR, conjunctivitis, asthma, anaphylaxis, insect stings - SCIT/SLIT - Must have good adherence, only 1 allergen - Months of progressive low dose exposure under specialist supervision

Answer 426

Pathological immune response mounted against a specific food allergen. Usually IgE mediated. NB a non-immunological hypersensitivity reaction to specific food is called food intolerance.

Answer 427

Infants most common is milk, egg and peanut Children = peanut, tree nut, fish and shellfish Food allergy can be secondary. If so, usually because of cross-reactivity of the allergen IE similar protein structures EG apple + birch tree = oral allergy syndrome

Answer 428

IgE - urticaria, facial swelling, anaphylaxis, 10-15 mins after food Non IgE - diarrhoea, vomiting, abdominal pain, sometimes failure to thrive, colic/eczema can be present, can present as blood in the stools from proctitis Intolerance - diarrhoea, vomiting, bloating, cramps, steatorrhoea

Answer 429

IgE mediated - skin prick tests or RAST, NB both can yield false positive IE individual sensitised but not allergic, but usually a greater response = greater likelihood of allergy Non IgE - Usually relies on clinical Hx + examination, + endoscopy/biopsy. Diagnosis is supported by presence of eosinophilic infiltrates Both IgE/non - gold standard is exclusion of food, followed by a double blind placebo challenge

Answer 430

Avoidance Allergic attack education Adrenaline / EpiPen Food allergy to cows milk / eggs usually resolves in early childhood, but nuts/seafood usually persists

Answer 431

Second gen non-sedative antihistamines (top/oral) Topical corticosteroid nasal/eye preps Chromoglycate (mast cell stabiliser) eye drops LTRA eg montelukast Nasal decongestants - DO NOT USE FOR MORE THAN 7 days else risk of rebound effect Allergen IT Systemic corticosteroids ARE NOT USED DUE TO RISK OF ADVERSE EFFECTS

Answer 432

Rash resulting from exposure to allergen or viral infection Angiooedema = involvement of deeper tissues: swelling of the lips and soft tissues around the eyes Chronic = >6weeks - usually non-allergic NB physical urticarias: cold, delayed pressure, heat contact, solar, vibratory NB other causes: water (aquagenic), sweating (cholinergic), aspirin, NSAIDs, C1 esterase inhibitor deficiency [angiooedema w/o urticaria/pruritis]

Answer 433

- May be IgE mediated: immediate Sx on ingestion - urticaria->angio oedema-> anaphylaxis depending on severity DIAGNOSED BY: skin prick test - Non - IgE - loose stools, failure to thrive, skin prick negative, elimination reduces symptoms, reintroduction reproduces Sx - Non-allergic cows milk hypersensitivity - aka temporary lactose intolerance - prev well, develops D+V, vomiting settles but watery stools continue for several weeks, on stool sample - NO PATHOGENS but reducing substances (ie detection of glucose, fructose, lactose, galactose, and pentose, depicting malabsorption)

Answer 434

An anal fissure is a tear of the squamous epithelial mucosa of the anal canal, between the anocutaneous junction and the dentate line. They most commonly occur during passage of a firm stool. Anal fissures are common in infancy, and they represent the most common cause of bright rectal bleeding at any age.

Answer 435

The generally accepted proximate cause of the anal fissure is a mechanical tear resulting from the passage of hard stool. An unhealed fissure may become infected and develop into a chronic ulcer. A healed fissure may develop into a classic sentinel skin tag in the posterior midline. Fissures have a predilection for the posterior midline (90%) but may also be located in the anterior midline or laterally. The explanation for this phenomenon is both anatomic and functional. The posterior commissure of the anoderm is less well perfused than other anodermal regions.

Answer 436

Most fissures affecting the pediatric population manifest in children aged 6-24 months; however, the overall incidence of the problem is not well described.

Answer 437

Constipation | Low fibre diet

Answer 438

Cry on bowel movements Streaks of blood on surface of faeces Hard stool Fresh blood on toilet paper/loo It is important to remember that underlying systemic illness frequently manifests with anal lesions. Thus, pertinent negatives, such as fever, rash, oral or skin lesions, weight loss, diarrhea, and abdominal pain, should be excluded. Visualisation of fissure on examination The fissure appears as a minor laceration, usually in the midline, and is more often posterior than anterior. If the fissure is chronic, a small external skin tag (ie, sentinel tag) may be identified at the base of the laceration; this represents epithelialized granulomatous tissue secondary to chronic inflammation. If a fissure is suspected, palpation of the abdomen is essential to check for palpable masses (stool) in the left lower quadrant. If the examination is limited by pain and the diagnosis remains unclear, an examination under anesthesia should be pursued.

Answer 439

Will heal in 10-14 days Surgery only required if doesn't heal after 6-8weeks (eg, chemical or surgical sphincterotomy) Conservative Fibre diet, stool softeners (osmotic usually polyethylene glycol) Chemical sphincterotomy - topical GTN 0.2%, [SE GTN headache] Topical diltiazem 2% gel Topical nifedipine with lidocaine Botox injections reduce anal sphincter tone by inhibiting AcH release (normally not done in children) Surgery: Outpatient open lateral internal sphincterotomy

Answer 440

Recurrence rates of open or closed lateral sphincterotomy have been reported to be 0-10%, with most of the recurrences occurring in adults and with chronic fissures. In contrast, anal dilatations have the highest rates of fistula recurrence (10-30%) and, for this reason, are not recommended in children.

Answer 441

Headache and diarrhea are the most common complications of administering topical nitrates and stool softeners, respectively. Significant hypotension with topical nitrate administration has not been reported in the literature. However, during the first office visit, children and their families should be questioned about a history of vascular headaches, and blood pressure should be taken before the initial application of topical nitrates. Incontinence has not been associated with these therapeutic regimens. Short-term complications of operative therapy include urinary retention, hematoma formation, and incontinence. Long-term complications, such as difficulty controlling flatus, daytime soiling of underwear, and nighttime incontinence, are noted with both open and closed internal sphincterotomy.

Answer 442

Asthma is a chronic respiratory disorder characterised by variable airway inflammation, airway obstruction, and airway hyper-responsiveness. These features interact to determine the clinical symptom pattern of the individual. While the majority of asthmatic children have an intermittent symptom phenotype, the minority have persistent symptoms, reflecting the underlying chronic inflammation. In older children, as in adults, this may lead to permanent structural alterations of the airway wall (airway remodelling) and potentially a more severe asthma phenotype. This topic covers the treatment of children up to 12 years of age. Children 12 years and older are treated the same as adults, except for emerging therapies such as bronchial thermoplasty. Please see our Asthma in adults topic for more information. As paediatric asthma differs from adult asthma, child-specific asthma guidelines should be used and adult and adolescent guidelines should not be extrapolated to younger age groups. The prevalence of childhood asthma appears to have plateaued in many affluent countries. However, asthma remains a significant cause of childhood morbidity and mortality, and is still a common problem managed in ambulatory and emergency care settings. Most children with asthma have mild intermittent asthma and do not require daily therapy. Minimum doses and medications for maximal control should be used in those who require preventative therapies. Therapy should be individualised. A number of important differential diagnoses, adherence and environmental issues should be considered when evaluating a child with suspected asthma, especially in very young children or when high doses of inhaled corticosteroids are required.

Answer 443

Paed asthma = most common chronic respiratory disease in the developed world 10% prev roughly Prepubertal male + post pubertal females most common

Answer 444

Mixed genetic / environmental Transient early wheezing (1 or more episodes of lower respiratory tract illness [LRTI] with wheezing in the first 3 years of life, but no wheezing at 6 years of age) Late-onset wheezing (no history of LRTI with wheezing in the first 3 years, but wheezing at 6 years of age) Persistent wheezing (1 or more episodes of LRTI with wheezing in the first 3 years of life, and wheezing at 6 years of age).

Answer 445

``` STRONG Allergic sensitisation/positive SPT Atopic disease Wheezing triggered by non-viral non-allergic environmental factors (change in weather, environmental tobacco smoke, exercise, and emotion) Resp virus early in life Serum eosinophilia (>4%) Fix Passive/active smoking Abnormal lung function/hyperresponsiveness ``` WEAK Female Air pollution Obesity

Answer 446

``` COMMON Wheezing SOB/dyspnoea Features atopic disease Tachypnoea Recessions Accessory muscle use Hx of response to Rx ``` ``` OTHER COMMON >3yo Dry night time cough Dyspnoea on exertion Expiratory wheezing ``` UNCOMMON Chest wall deformity - Harrison sulci, hyperinflation

Answer 447

1st Spirometry - dec FEV1/FVC ratio >0.8 [obstructive pattern] >12% improvement post bronchodilator CxR - hyperinflation/normal ``` CONSIDER PEFR challenge - BEWARE (limited role in paediatric asthma due to its effort dependence and lack of sensitivity) Airway challenge - Dec FEV1 Exercise challenge FBC - Eosinophilia Sweat test - NORMAL [CF] FeNO - elevated ```

Answer 448

0-4yo 1. SABA PRN + education 2. Low dose ICS ie Fluticasone propionate 50 micrograms/day + SABA 3. Add LTRA - Montelukast 4mg oral 4. Med dose ICS 125ug fluti 5. Add LTRA 6. High dose ICS 250ug fluti 7. Add LABA IE NO LABAs in <4 until very last line Rx ``` 5+ 1. SABA 2. Low dose ICS 3. Add LTRA/theophylline/sodium chromoglycate 4. Med dose ICS + SABA OR Low dose ICS + LABA/LTRA/theophylline 5. High dose ICS + LABA/LTRA/theophylline 6. Immunomodulator - omalizumab 7. Oral CS / immunomodulator ```

Answer 449

Life expectancy equivalent ICS Regular use has negative effects on short-term linear growth, particularly at higher doses. A transient slowing in height velocity does occur initially, and may affect final achieved adult height.

Answer 450

``` Exacerbation - ST H Remodelling - V M Dental caries RML syndrome Oro candidiasis Adrenal suppression ```

Answer 451

A wheeze present in pre-school children. Thought to be viral-associated, resulting from small airway susceptibility to narrowing/obstruction during inflammation/aberrant immune responses to viral infections. Thus = episodic

Answer 452

Maternal smoking during/after preg Prematurity Male Usually resolves by 5

Answer 453

``` Bronchiolitis, pneumonia Transient early wheezing Non-atopic wheeze after LRTI Atopic asthma Cardiac failure Inhaled foreign body ```

Answer 454

Persisting dyspnoea/tachy despite reliever therapy Exhaustion Marked reduction in PEFR <92% saturation on air CxR only indicated if there are unusual Sx / Infection Sx

Answer 455

``` SEVERE O2 via face mask Try SABA 10 puffs / oral or IV pred Neb ipatropium Repeat bronchodilators every 20-30mins ``` Life threatening - AKA silent chest, altered consciousness, cyanosis, O2 <92%, PEFR <33% Neb salb+ipa bromide IV hydrocortisone Discuss with senior clinician or PICU Repeat bronchodilator every 20-30 min

Answer 456

``` SEVERE O2 via face mask Try SABA 10 puffs / oral or IV pred Neb ipatropium Repeat bronchodilators every 20-30mins ``` Life threatening - AKA silent chest, altered consciousness, cyanosis, O2 <92%, PEFR <33% Neb salb+ipa bromide IV hydrocortisone Discuss with senior clinician or PICU Repeat bronchodilator every 20-30 min

Answer 457

Autism spectrum disorder (ASD) is characterised by persistent impairments in social communication, and restricted, repetitive, and stereotyped patterns of behaviours, interests, or activities. Abnormal development is present during early childhood, but may only become manifest later. There may be a history of language delay (single-word or phrase speech delay) and 25% of children lose previously acquired acquired language skills (regression). Approximately 20% to 30% of children develop epilepsy and 50% have intellectual disability; others have ability in the average or above average range.

Answer 458

In the last 10 years, the detected prevalence of ASD has increased substantially. More recent data suggest that at least 1% of children have ASD; some studies report a prevalence of around 2%. Around 50% of children with ASD have an intellectual disability. Data suggest that the rise in ASD diagnosis has been accompanied by a fall in the prevalence of other neurodevelopmental disorders and that more accurate clinical diagnosis underlies the increase in detected prevalence.

Answer 459

It is well established that there are strong genetic influences in the development of ASD, with a sibling recurrence risk in the region of 10%. In a minority of cases (approximately 10%) ASD occurs in association with cytogenetically detectable chromosomal abnormalities and recognised genetic syndromes, such as fragile X syndrome, tuberous sclerosis, and Down's syndrome.

Answer 460

STRONG Male 4:1 FHx WEAK Genetic variants Chromosomal abnormalities - NF1/Downs/tuberous sclerosis

Answer 461

COMMON RFs Language delay or regression - no single words by 2yo, or phrases by 33months, lack of babble in 1st yr, echolalia, stereotyped speech, NB some may develop language very early Verbal + non-verbal communication impairment - dec pointing, lack of social interaction, dec facial expressions, unable to depict emotion Social impairment - uninterested in play, lack of friendships, misunderstandings Repetitive/rigid/stereotyped behaviour or interests - repetitive language or requests, toys, play, obsessions, distressed if this is altered. ``` OTHER COMMON Placid or irritable as a baby Feeding difficulties Unusual posturing Motor stereotypes - repetitive snapping, clapping, spinning etc Sensory interests ``` UNCOMMON Macrocephaly Signs of fragile X syndrome, tuberous sclerosis, dysmorphism (may indicate chromosomal disorder) are weakly associated with ASD.

Answer 462

ASD screening questionnaire - eg autism screening questionnaire Childhood autism rating scale Childhood autism screening test Consider audiology

Answer 463

``` Applied behaviour analysis Picture exchange communication systems ASD preschool programme Early start Denver model ChildsTalk ``` PHARMACOLOGICAL Some psychotropics may aid those with very challenging behaviours, aggression, or irritability that does not respond to behavioural techniques ``` Risperidone Aripiprazole Fluoxetine Methylphenidate Atomoxetine Melatonin - for sleep disturbance Buspirone ```

Answer 464

``` Developmental regression Intellectual disability Epilepsy Anxiety Depression ```

Answer 465

any adults with ASD require lifelong full-time care. About 15% of adults with ASD will live independent lives, whereas 15% to 20% will live alone with community support. Verbal and overall cognitive capacity seem to be the most important predictors of ability to live independently as an adult.

Answer 466

Breath-holding spells (BHS) are the occurrence of episodic apnea in children, possibly associated with loss of consciousness, and changes in postural tone.

Answer 467

``` 5% of population M=F 6-18 months mainly Disappear after 5yo Unusual before 6months Fix ```

Answer 468

FHx 4 types 1. Simple - holding of breath in and expiration 2. Cyanotic - anger/frustration, blue in colour, loss of tone, LOC, dec CO, no post-ictal phase/incontinence, child is fine between spells 3. Pallid breath-holding - child turns pale, LOC with little crying, some relationship to adult syncope 4. Complicated breath-holding - generally begins as either a cyanotic or pallid spell that then is associated with seizure like activity. Normal EEG.

Answer 469

4 types 1. Simple - holding of breath in and expiration 2. Cyanotic - anger/frustration, blue in colour, loss of tone, LOC, dec CO, no post-ictal phase/incontinence, child is fine between spells 3. Pallid breath-holding - child turns pale, LOC with little crying, some relationship to adult syncope 4. Complicated breath-holding - generally begins as either a cyanotic or pallid spell that then is associated with seizure like activity. Normal EEG. Lack of incontinence, last of post-ictal phase, ECG rules out arrhythmia

Answer 470

Clinical ECG - rule out arrythmia Some evidence that anaemic = more prone to BHA/S

Answer 471

Reassurance No definitive Rx Some evidence to suggest iron therapy if anaemic may help

Answer 472

The involuntary passage of gastric contents into the oesophagus Very common in infancy Inappropriate relaxation of the oesophageal sphincter as a result of functional immaturity. Resolves by 12months

Answer 473

Neurodevelopmental disorders Preterm Surgery for oesophageal atresia Diaphragmatic hernia

Answer 474

Recurrent regurgitation or vomiting Normal weight Otherwise well NB more dangerous with neurodevelopmental disorders

Answer 475

Clinical Can do 24hr oesophageal ph monitoring 24 hr impedance monitoring Endoscopy to identify oesophagi's / exclude other causes of vomiting

Answer 476

Uncomplicated = reassure parents Thickening agents for milk - nestargel / carobel Position 30deg post feeds More significant - h2 antagonists - ranitidine, PPI - omeprazole No response - consider cows. milk protein allergy Surgical management only if stricture / very severe + no response. Nissen fundiplication.

Answer 477

Excellent prognosis

Answer 478

Osgood-Schlatter's disease (OSD) is an overuse syndrome of the paediatric population that typically affects young athletes during their adolescent growth spurt. It presents with pain, tenderness to palpation, and swelling directly over the tibial tubercle. It is typically a self-limiting condition that resolves after a period of activity modification, with ultimate resolution occurring when patients reach skeletal maturity. Overuse syndrome of the paediatric population that results in traction apophysitis of the tibial tubercle. Typically occurs during an adolescent growth spurt in young athletes who participate in sports that involve repeated knee flexion and forced extension. Males are affected more often than females. Diagnosis is clinical; patients typically present with pain, swelling, warmth, and localised tenderness to palpation over the tibial tubercle. Conservative treatment is successful in most patients and consists of activity modification, ice, stretching, and strengthening exercises. Plain x-rays of the knee are used to rule out other lesions of the proximal tibia if pain is unilateral and/or severe and persistent. Up to 10% of patients may experience pain as adults due to formation of a separate ossicle at the tibial tubercle. Rarely, when this condition fails to respond to non-surgical management, excision of the affected part of the tibial tubercle predictably relieves symptoms.

Answer 479

``` 21% athletic adolescents 4.5% non-athletic 8-12yo for girls 12-15yo boys M>F Bilateral in 20-30% ```

Answer 480

Traumatic theory: micro-avulsion at the insertion of the patellar tendon (apophysis) caused by repeated traction injury. Circulation theory: disturbance in the circulation of the apophysis due to rapid bone growth during adolescence, leading to the inability of the apophysis to withstand traction forces from the patellar tendon.

Answer 481

STRONG Adolescent males Athletic participation Hx OSD in contralateral knee WEAK High position of patella (patella Alta) More proximal/broader tibial attachment of patella tendon Increased external tibial torsion

Answer 482

``` COMMON RFs Pain at tibial tubercle Worsened by extension Localised tenderness ``` OTHER COMMON Activity limitation Localised warmth Prominence of tibial tubercle (late disease) Pain at tubercle with resisted knee extension

Answer 483

Plain X-ray - may be normal; often demonstrate enlarged tibial tubercle, sometimes with fragmentation of the apophysis - Should be ordered initially if symptoms are unilateral, severe, or persistent, and if there is any history of trauma. US - pretibial swelling MRI

Answer 484

``` Acute Rest NSAIDs - ibuprofen 400mg orally max 2400mg/day Physio to strengthen quads Bracing and immobilisation ``` Severe Surgery - excision of the ossicle and/or osteoplasty of the tibial tubercle, with excellent long-term outcomes

Answer 485

There is excellent prognosis in over 90% of cases with non-operative management.

Answer 486

Recurvatum (hyper-extension) knee deformity -> high riding patella -> early osteoarthritis Persistence of bony deformity

Answer 487

Osgood-Schlatter's disease

Answer 488

A premature infant is an infant born before 37 completed weeks of gestation. Term infants are defined as those born between 37 and 41 weeks of gestation. A premature infant is an infant born before 37 weeks' gestation. In addition to immediate post-birth resuscitation, efforts to reduce excessive oxygen exposure, hyperventilation, hypothermia, and hypoglycaemia must be made. Consultation with a neonatologist as soon as possible is recommended to provide expertise to reduce potential morbidity. Gestational age determination done within hours of birth is important for designating further care of the premature newborn. The risk of adverse outcomes varies inversely with gestational age. The New Ballard Score uses measurements of neuromuscular and physical maturity to complement the maternal history and ultrasonographic findings to estimate gestational age, although a first-trimester ultrasound remains the most accurate assessment of gestational age. Extremely premature infants (gestational age <28 weeks) exhibit the greatest morbidity and mortality, although complications may occur with any degree of prematurity.

Answer 489

5-9% of births in Europe The risk for preterm birth is higher in black (16% to 18% of live births) than white (5% to 9% of live births) women, with a lower rate in East Asian and Hispanic women. The majority (60% to 70%) of preterm infants are born near term (34 to 36 weeks' gestation), 20% are moderately premature (32 to 33 weeks), 15% are severely premature (28 to 31 weeks), and 5% are extremely premature (<28 weeks).

Answer 490

Modifiable factors include: A short inter-pregnancy time interval: a 2-fold risk increase in preterm birth if there is <6 months between pregnancies. [1] A maternal pregnancy BMI <19 or >35. [1] [3] Psychological or social stress and maternal depression increase the risk of preterm birth 1- to 2-fold. [1] Tobacco use during pregnancy increases the risk of preterm birth 1- to 2-fold. Cocaine and heroin use are also associated with preterm delivery. [1] Intra-uterine infection may account for as much as 40% of preterm births. Atypical micro-organisms ( Mycoplasma and Ureaplasma ) have been implicated. [1] Severe bacterial vaginosis is associated with a 1- to 3-fold increase in the rate of preterm birth. [1] Poorly controlled maternal illness such as diabetes mellitus (or gestational diabetes) is associated with an increased likelihood of congenital anomalies that may lead to preterm delivery. Poorly controlled maternal hypertension may also lead to preterm delivery. [1] Non-modifiable causative factors include: Race: black women have a higher risk of preterm delivery compared with white women. Black women are 3 to 4 times more likely to have a very early preterm birth than other racial and ethnic groups. [1] Previous preterm birth: results in a 2- to 3-fold increased risk of preterm delivery for future pregnancies. [1] Chronic medical diseases such as diabetes, asthma, thyroid disease, hypertension. Maternal surgery in the second or third trimester can result in preterm labour. [1] Maternal causes: pre-eclampsia/pregnancy-induced hypertension, antepartum haemorrhage, oligohydramnios or polyhydramnios, cervical or uterine abnormality. [1] Fetal causes: multiple gestation, fetal growth restriction. [1] Preterm premature rupture of membranes (PPROM) is associated with preterm birth. Concurrent intra-uterine infection frequently precipitates labour. [1] Development of preterm spontaneous labour is a major cause of preterm births, due to the limited ability to stop labour once it is progressive. [1] Between 30% and 35% of preterm births occur as a result of fetal or maternal conditions, 40% to 45% are due to spontaneous labour with intact membranes, and 25% to 30% are due to PPROM.

Answer 491

STRONG ``` Spontaneous preterm labour (most commonly intrauterine inflammation due to infection) Intrauterine infection PPROM Pre-eclampsia Pregnancy induced HTN Abruption/antepartum haemorrhage Poly/oligohydramnios Severe bacterial vaginosis Multiple gestation Previous preterm birth Fetal abnormality Cervical incompetence Uterine abnormality Gestational DM Maternal surgery during pregnancy Chronic maternal illness Maternal pregnancy BMI <19 >35 ``` ``` WEAK Short interpregancy interval Drug use Stress/depression Non-white ```

Answer 492

``` COMMON RFs SFH - if fibroids, malposition, maternal body habitus, multiple gestation, oligohydramnios or polyhydramnios, fetal growth restriction (FGR), or the presence of a small-for-gestational-age (SGA) infant, Infant physical maturity score Infant neuromuscular maturity score Infant birth weight ```

Answer 493

Fetal biometry during antenatal period - assessment of crown-rump length, fetal femur length, head and abdominal circumference, biparietal diameter.

Answer 494

<31w Resus, PPV, CPAP, transfer to NICU 40% O2 Temperature maintenance Umbilical vascular access Dextrose 10% Empirical ABx - Ampicillin + gent or amp + cefotaxime Caffeine - treats recurrent apnoea (discontinued with no apneoa after 5-7 days) Surfactant Inotropes if hypotensive - dopamine/dobutamine (if fails - hydrocortisone) Prostaglandins if congenital heart disease to maintain ductal patency 32-36 NG feed - Slow advancement of enteral feeding is therefore required. Breast milk and human milk-based fortifiers are recommended. Reduces NEC

Answer 495

Morbidity and mortality for all complications of prematurity are inversely proportional to gestational age. Although the overall incidence of premature birth is <15%, it accounts for close to 70% of infant mortality. Morbidity of prematurity is most pronounced in extremely premature infants. Most infants require hospitalisation until 35 to 36 weeks' post-menstrual age to reach appropriate milestones prior to discharge. These include maintenance of normothermia outside of an isolette, adequate oral intake, demonstration of adequate growth/weight gain, and absence of apnoea or bradycardia. Parents must demonstrate comfort in caring for their infant and addressing specific issues. Extreme prematurity: gestational age <28 weeks This group suffers the greatest mortality and complications of prematurity, which include bronchopulmonary dysplasia (BPD), white matter injury (WMI) and neurodevelopmental impairment (NDI), necrotising enterocolitis (NEC), intraventricular haemorrhage (IVH), patent ductus arteriosus (PDA), sepsis, pneumonia, retinopathy of prematurity (ROP), and behavioural/motor/cognitive problems such as ADHD, poor motor skills, and lower IQ scores. Hospital courses are very prolonged, and parents often require significant support during periods of critical illness. Severe prematurity: gestational age 28 to 31 weeks Mortality is significantly lower than that seen in extremely premature infants. Overall morbidity is also less significant, although severe IVH, WMI and NDI, and behavioural/motor/cognitive problems occur. Sepsis, NEC, PDA, and ROP are also present in some infants. Long-term outcome is related to the extent of the pathology in each infant. Moderate prematurity: gestational age 32 to 33 weeks This group of infants is less often affected by respiratory distress syndrome (RDS), IVH, or ROP. However, problems of sepsis, PDA, and NDI may be present and should be managed as appropriate. Nutritional deficiency and failure to thrive should be managed with adequate caloric intake and follow-up of growth. Late-preterm: gestational age 34 to 36 weeks These infants rarely suffer the severe debilitating complications seen with prematurity (e.g., PDA, RDS, IVH, ROP, periventricular leukomalacia, NEC). However, although often treated the same as 'term' infants, they may experience significant difficulties with feeding and hospital re-admission for dehydration, jaundice, and sepsis. Long-term cognitive and behavioural deficits are comparable with term infants.

Answer 496

``` RDS Sepsis Anaemia of prem Failure to thrive Jaundice - due to inadequate gastrointestinal losses of bilirubin, compounded by the slow advancement of enteral nutrition Interventricular haemorrhage NEC Patent ductus arterioles Retinopathy of prematurity Re-hospitalisation Cerebral palsy / neurodevelopmental delay ADHD Bronchopulmonary dysplasia/chronic lung disease Short stature Death Abuse/neglect ```

Answer 497

Premature birth

Answer 498

Premature birth

Answer 499

Conjunctivitis is the inflammation of the lining of the eyelids and eyeball caused by bacteria, viruses, allergic or immunological reactions, mechanical irritation, or medicines. Symptoms include an irritated red eye with a watery or purulent discharge. Allergic conjunctivitis is usually bilateral with watery discharge and itching. Treatment for allergic conjunctivitis includes topical mast cell stabilisers and antihistamines; bacterial conjunctivitis treatment includes topical antibiotics; viral conjunctivitis requires symptomatic treatment. Bacterial and viral conjunctivitis is highly contagious; measures to prevent spread of infection should be considered.

Answer 500

1% GP consultations The incidence rate appears to be higher in children <1 year old (80 cases per 1000 patient-years) than in children >4 years of age (12 cases per 1000 patient-years). Seasonal conjunctivitis represents more than 90% of cases of allergic conjunctivitis. Bacterial conjunctivitis is more common in children, and viral conjunctivitis is more common in adults. Of infectious conjunctivitis, 42% to 80% is bacterial, 3% is chlamydial, and 13% to 70% is viral. Viral conjunctivitis represents up to 50% of all acute conjunctivitis in primary care.

Answer 501

The most common bacterial pathogens in infective conjunctivitis include Pneumococcus , Staphylococcus aureus , Moraxella catarrhalis , and Haemophilus influenzae. N.gonorrhoea (hyper acute purulent)/chlamidya(persistent) Viral conjunctivitis can be caused by adenovirus, herpes simplex, Epstein-Barr, varicella zoster, molluscum contagiosum, coxsackie, and enteroviruses. ``` Allergic conjunctivitis Atopic keratoconjunctivitis Seasonal allergic conjunctivitis Vernal conjunctivitis Giant papillary conjunctivitis ``` Bacterial conjunctivitis Gonococcal (hyperacute) bacterial conjunctivitis Non-gonococcal bacterial conjunctivitis Chlamydial conjunctivitis Viral conjunctivitis Adenoviral conjunctivitis Herpetic conjunctivitis Other viruses Less common forms of conjunctivitis: Mechanical/irritative/toxic conjunctivitis Contact lens-related conjunctivitis Toxic/chemical conjunctivitis Medication-related conjunctivitis ``` Immune-mediated conjunctivitis Ocular cicatricial pemphigoid Graft-versus-host disease Stevens-Johnson syndrome Neoplastic ```

Answer 502

``` STRONG Exposure to infected person Infection in one eye Environmental irritants Allergen exposure Camps swimming pools, schools Asian or mediterranean young male (allergic) Atopy Contact lense use Ocular prosthesis [giant papillary conjunctivitis] Mechanical irritation ``` ``` WEAK Asthma Hayfever Topical eye medicines Anti-histamines (make eyes dry) Sebacious gland carcinoma ```

Answer 503

``` COMMON RFs Watery discharge - mainly viral Ropy mucoid discharge - allergic Purulent discharge - bacterial Itching predominant - allergic Eyelids stuck in morning - viral/bacterial Tender, pre-auricular lymphadenopathy - viral ``` ``` OTHER COMMON Conjunctival follicles - viral Superficial punctate keratopathy - viral Unilateral - bacterial Cornial sub epithelial infiltrates Corneal pannus ```

Answer 504

Rapid adenovirus assay Cell culture - bacterial/viral Gram stain - G-ve = N.gonn usually PCR viral/bacterial DNA Ocular PH for chemical splash - continue eye irrigation until pH 7 if abnormal

Answer 505

ALLERGIC Artificial tears - eg carmellose drops Mast cell stabilisers eg sodium chromoglycate + antihistamine (topical or oral) Topical NSAID if severe: eg diclofenac ophthalmic: (0.1%) 1 drop into the affected eye(s) four times daily Topical corticosteroid BACTERIAL Topical BS ABx MILD = azithromycin ophthalmic: (1%) 1 drop into the affected eye(s) twice for one day, then once daily for 4 days MOD-SEV = ciprofloxacin ophthalmic: (0.3%) 1 drop into the affected eye(s) four times daily levofloxacin ophthalmic: (0.5%) 1 drop into the affected eye(s) four times daily Chlamidya - azithromycin/doxy VIRAL Antihistamines/tears/topical corticosteroids If confirmed adenovirus: Topical ganciclovir

Answer 506

``` Dry eyes Keratitis Subepithelial corneal infiltrates Lacrimal drainage problems Symblepharon ```

Answer 507

Allergic conjunctivitis Most patients respond to treatment but may experience seasonal exacerbations. Bacterial conjunctivitis Generally self-limiting over 5 to 10 days; no significant long-term complications. Contact lens wearers and immunocompromised patients are at most risk of complications. Viral conjunctivitis Most cases are self-limiting; approximately 30% to 50% of patients with the form of adenovirus that causes epidemic keratoconjunctivitis may develop subepithelial infiltrates, which may lead to persistent visual loss and light sensitivity. Non-infectious conjunctivitis Most patients recover well after discontinuation of the cause.

Answer 508

conjunctivitis

Answer 509

conjunctivitis

Answer 510

conjunctivitis

Answer 511

The most common malignant intraocular tumour in children. It can be unilateral or bilateral, familial or spontaneous, and in 30% to 40% of cases is accompanied by a germinal mutation in the RB1 gene. It often causes an exudative retinal detachment with vitreous seeding. Most common intraocular malignancy in children. 90% of all retinoblastoma cases are diagnosed by 3 years of age. Disease can be unilateral or bilateral. Most common presenting sign is leukocoria (white papillary reflex), which can often be seen in photographs. In 30% to 40% of cases, the disease is associated with a germline mutation in the RB1 gene, which carries an associated increased risk of secondary non-ocular tumours. 10-year survival is 99% in resource-rich countries. Patients in resource-poor countries typically present with extraocular extension or metastatic disease with a dismal prognosis. Treatment typically involves chemotherapy (systemic or intra-arterial) plus focal therapy with laser or cryotherapy. In advanced cases, enucleation may be required.

Answer 512

The incidence of retinoblastoma is 1 in 12,000 to 30,000 live births. In the UK, between 50 and 60 children are newly diagnosed each year, and retinoblastoma accounts for only about 3 out of every 100 cancers occurring in children under the age of 15 years. For many years, the reported median age at diagnosis has been 18 months, with the median age of diagnosis of bilateral cases occurring at 12 months and of unilateral cases at 24 months.

Answer 513

Genetics A mutation in both alleles of the RB1 gene is widely believed to be a prerequisite for the presence of disease. Other mutations are likely to be necessary for progression to clinical retinoblastoma. [10] One study showed that gene expression profiles may be dynamic, varying in a temporal and regionally (apical and basal tumour regions) dependent fashion. [11] However, only 10% of patients have a previously established family history of the disease. The majority of cases (even in the 25% to 30% of patients with the bilateral germinal form of the disease) have no antecedent family history and occur as a result of spontaneous mutations either early in embryogenesis or de novo in one set of parental germline cells. [12] Viral exposure One small clinical study performed in Mexico indicated that the presence of HPV sequences in retinoblastoma tumour tissue may play a role in the development of sporadic retinoblastoma. [13] Advanced paternal age There is evidence that mutations of RB1 are more common during spermatogenesis than oogenesis. [14] However, clinical studies examining the relative risk of patients with sporadic germinal disease with fathers older than 50 years have demonstrated mixed results.

Answer 514

STRONG Mutation in RB1 gene WEAK HPV exposure Advanced paternal age

Answer 515

COMMON Age <3 Leukocoria (white pupillary reflex) Strabismus ``` UNCOMMON Fix Pseudoorbital cellulitis 13q syndrome Visual disturbances Ocular pain Pinealoma ```

Answer 516

Fundoscopy and examination under anaesthesia Ophthalmic A- and B-scan ultrasound MRI head/ orbit - pinealoma BM aspiration+LP if suspect metastatic disease

Answer 517

Enucleation (removal of eye) Post-op chemo - carboplatin/vincristine (systemic/intraarterial) Laser ablation External beam therapy - Although external beam radiation was used frequently in the past, it is now reserved for cases that do not respond satisfactorily to chemotherapy/focal therapy, because it results in an increased risk of secondary cancers in this population.

Answer 518

Patient survival is 99%, but there is obviously no ocular salvage Highest ocular salvage = systemic chemo/focal therapy

Answer 519

Intrarretinal haemorrhage / vascular occlusion post chemo Cataract formation post beam radiation Fibrosis of extra ocular muscles with carboplatin Optic nerve atrophy with carboplatin Secondary malignancy

Answer 520

Strabismus refers to a misalignment of the eyes. If strabismus develops in adults, it can cause diplopia (double vision) and visual confusion (seeing different objects in the same location), and it is an important cause of amblyopia in children. Whereas normally both eyes fixate (look at) the object of interest, in strabismus one eye fixates and the other (non-fixating eye) is deviated. Misalignment of the visual axes of the eyes; may be latent or manifest and, if manifest, it may be constant or intermittent. Common cause of diplopia (double vision) and visual confusion (seeing different objects in the same place) in adults. Important cause for amblyopia (decreased vision in an anatomically normal eye caused by suppression) in children. May be aesthetically obvious to the patient and others, resulting in psychosocial problems. Evaluation involves a detailed medical history, including a complete ocular history, followed by thorough neurological and ophthalmic examinations. Treatment is directed at restoring and maintaining ocular alignment, eliminating diplopia or visual confusion, enabling binocular vision, and restoring normal appearance. If strabismus is secondary to an underlying cause (e.g., abducens nerve [cranial nerve VI] palsy causing esotropia), treatment of this condition is necessary.

Answer 521

Prevalence of 1% of children aged <11 year The prevalence of strabismus is higher in those with intellectual disabilities (44.1%) compared with the general population. The prevalence in white people is 2% to 4%

Answer 522

STRONG FHx Prematurity WEAK Refractive error

Answer 523

The aetiology of most infantile and paediatric forms of strabismus is poorly understood. Comitant (concomitant) strabismus seems to be a complex genetic trait, with the involvement of more than one gene. Twin studies have revealed a concordance rate of 73% to 82% among monozygotic twins and 35% to 47% among dizygotic twins. The rate for dizygotic twins is higher than the concordance for siblings, indicating that environmental factors are likely to be involved. No modifiable risk factors have been identified for most forms of comitant strabismus. Strabismus is more common in children with global CNS problems, such as cerebral palsy or developmental delay.

Answer 524

``` Diplopia with both eyes open. Eye misalignment Amblyopia (dec acuity in one eye) Abnormal eye movements Visual confusion Asthenopia (eye strain) ``` UNCOMMON Intermittent closure of one eye Cranial nerve palsy - Acquired paralytic strabismus is related to malfunction of one or more of the 3 cranial nerves (oculomotor, trochlear, abducens) providing motor supply to the extraocular muscles. This can be determined through a detailed examination of the cranial nerves. Oculomotor nerve (cranial nerve III) palsy is characterised by exotropia, hypotropia, ptosis, and possible mydriasis (pupil dilation). Abducens nerve (cranial nerve VI) palsy is characterised by esotropia, and decreased abduction of the involved eye. Trochlear nerve (cranial nerve IV) palsy is characterised by hypertropia, elevation in adduction, and possible excyclotorsion of the involved eye.

Answer 525

Cover/uncover test - see if other eye will fixate Alternate prism cover test (APCT) Hirschburg test - asymmetrical reflexion of light Krimsky test - uses prisms to determine the angle of misalignment

Answer 526

``` Treatment of refractive errors Amblyopia Rx with patch/atropine Extraocular muscle surgery Chemodenervation with botox Overminus prescription ```

Answer 527

Infantile esotropia The goal of treatment is to align the eyes. Usually, small-angle esotropia (up to 8 prism diopters) will result in stable alignment and allow rudimentary stereopsis. Elevation in adduction, latent nystagmus, and amblyopia occur in 30% to 50% of patients and may require further treatment. Although some studies suggest that aligning the eyes within the first 6 months of life results in better binocular function, this is not universally accepted.

Answer 528

Amblyopia Decreased binocular vision Psychosocial problems

Answer 529

strabismus

Answer 530

strabismus

Answer 531

Retinopathy of prematurity (ROP) is a serious vasoproliferative disorder that affects extremely premature infants. Retinopathy of prematurity often regresses or heals but can lead to severe visual impairment or blindness. Significant retinopathy of prematurity can lead to lifelong disabilities for the smallest survivors of neonatal ICUs (NICUs). It remains a serious problem despite striking advances in neonatology.

Answer 532

50-70% of those <1250g

Answer 533

Retinal vasculature begins to develop around 16 weeks' gestation. It grows circumferentially and becomes fully mature at term. Premature birth results in the cessation of normal retinal vascular maturation. Exposure of newborn premature infants to hyperoxia downregulates retinal vascular endothelial growth factor (VEGF). Blood vessels constrict and can become obliterated, resulting in delays of normal retinal vascular development. This hyperoxia-vasocessation is known as stage I of retinopathy of prematurity. Early on, oxygen and nutrients can be delivered to the retina by means of diffusion from the underlying choroid capillary bed. The retina continues to grow in thickness and eventually outgrows its vascular supply. Over time, retinal hypoxia occurs and results in an overgrowth of vessels; this hypoxia-vasoproliferation is stage II of retinopathy of prematurity. See the image below.

Answer 534

``` LBW Young gestational age Severity of illness: Sepsis RDS BPD Prolonged exposure to supplemental O2 IVH Patent ductus arteriosis ```

Answer 535

Opthalmologist diagnosis - screening should take place in those <1500-2000g of GA of <31w Follow-up examinations are based on initial examination findings. Most infants are screened every 2 weeks.

Answer 536

Opthalmologist diagnosis - screening should take place in those <1500-2000g of GA of <31w Follow-up examinations are based on initial examination findings. Most infants are screened every 2 weeks.

Answer 537

No standard medical therapies are available at this time. SURGICAL Ablative therapy currently consists of cryotherapy or laser surgery to destroy the avascular areas of the retina. The average gestational age (GA) at which surgery is necessary is usually 37-40 weeks. If the retinopathy of prematurity continues to progress, more than one treatment may be required. = CRYOTHERAPY OR LASER THERAPY = LASER PREFERABLE

Answer 538

``` Severe visual impairment Blindness Myopia Amblyopia Strabismus ``` Late complications include myopia, amblyopia, strabismus, nystagmus, cataracts, retinal breaks, and retinal detachment. Patients who did not progress beyond stage I or stage II have a good prognosis. Patients with posterior zone I disease or stage III, IV, or V have a guarded prognosis for their vision.

Answer 539

Near-sightedness, also known as short-sightedness and myopia, is an eye disorder where light focuses in front of, instead of on, the retina. This causes distant objects to be blurry while close objects appear normal. Other symptoms may include headaches and eye strain. Severe near-sightedness increases the risk of retinal detachment, cataracts, and glaucoma.

Answer 540

Combination of environmental and genetic factors. The underlying mechanism involves the length of the eyeball growing too long or less commonly the lens being too strong. It is a type of refractive error.

Answer 541

22% world population M=F Uncorrected near-sightedness is one of the most common causes of vision impairment globally along with cataracts, macular degeneration, and vitamin A deficiency.[

Answer 542

Focussing on near objects Time spent indoors Fix High socioeconomic class

Answer 543

Blurred vision Straining Headaches

Answer 544

Eye examination

Answer 545

Near-sightedness can be corrected with eyeglasses, contact lenses, or surgery.

Answer 546

Severe near-sightedness increases the risk of retinal detachment, cataracts, and glaucoma.

Answer 547

Far-sightedness, also known as hyperopia, is a condition of the eye in which light is focused behind, instead of on, the retina. This results in close objects appearing blurry, while far objects may appear normal. As the condition worsens, objects at all distances may be blurry.

Answer 548

Primarily affects young children 8% at 6yo 1% at 15yo More common again after 40yo - effects 50%

Answer 549

The cause is an imperfection of the eyes. Often it occurs when the eyeball is too short, or the lens or cornea is misshapen. Low converging power of eye lens because of weak action of ciliary muscles Abnormal shape of the cornea Far-sightedness is often present from birth, but children have a very flexible eye lens, which helps to compensate

Answer 550

FHx Diabetes Medications - Tumours around the eye

Answer 551

Blurred vision with close objects Preserved vision with far away objects Headache Eye strain Accommodative dysfunction (difficulty with depth perception), amblyopia, binocular dysfunction (difficulty seeing with both eyes) and strabismus

Answer 552

A diagnosis of far-sightedness is made by utilizing either a retinoscope or an automated refractor-objective refraction; or trial lenses in a trial frame or a phoropter to obtain a subjective examination. Slit lamp - examine the cornea/conjunctiva/anterior chamber/iris

Answer 553

Glasses Contacts Surgery: Photorefractive keratectomy (PRK) Removal of a minimal amount of the corneal surface Laser assisted in situ keratomileusis (LASIK) Laser eye surgery to reshape the cornea, so that glasses or contact lenses are no longer needed. Refractive lens exchange (RLE) A variation of cataract surgery where the natural crystalline lens is replaced with an artificial intraocular lens; the difference is the existence of abnormal ocular anatomy which causes a high refractive error. Laser epithelial keratomileusis (LASEK) Resembles PRK, but uses alcohol to loosen the corneal surface.

Answer 554

Strabismus | Amblyopia

Answer 555

Lactose intolerance refers to the development of gastrointestinal and/or systemic symptoms secondary to malabsorption of lactose caused by hypolactasia. It is characterised by reduced lactase (lactase-phlorizin hydrolase enzyme) concentration in the mucosal brush border (microvilli) of the small intestine, usually at the age of weaning. Malabsorption of lactose, however, does not always manifest as gastrointestinal symptoms; development of symptoms and symptom severity depend on the amount and rate of lactose reaching the colon, as well as the type and amount of colonic flora. Lactose intolerance is characterised by reduced lactase concentration in the mucosal brush border of the small intestine (also known as hypolactasia). It exists in four distinct forms: primary, secondary, congenital, and developmental. Symptoms can be gastrointestinal and/or systemic. Dietary elimination and challenge are generally diagnostic. Treatment includes reduction or elimination of dietary lactose. If elimination of lactose is necessary, alternative calcium sources are recommended.

Answer 556

Primary thought to be >70% of world population (many asymptomatic) Congenital = EXTREMELY rare - only 40 conformed cases Primary more common in African American/American Indian/hispanic/latino The age-related decline in lactase expression is usually complete during childhood Onset is typically subtle and progressive in primary disease, and most people first experience intolerance symptoms in late adolescence and adulthood. Secondary disease is more common in children, especially in developing countries where infections are the common cause

Answer 557

In all mammals, lactase concentrations are at their highest shortly after birth and generally decline rapidly after the usual age of weaning. Primary - due to polymorphisms Secondary (acquired) - Results from loss of lactase activity in people with lactase persistence due to gastrointestinal illnesses that damage the brush border of the small intestine (e.g., viral gastroenteritis, giardiasis, coeliac sprue). Endoplasmic reticulum stress (accumulation of misfolded proteins and alterations in calcium homeostasis in the endoplasmic reticulum leading to cell death) is one of the possible explanations of why loss of lactase persists after gut infections such as rotavirus. Developmental hypolactasia Related to suboptimal levels of lactase in the apical microvilli of the brush border surface of the small intestine in premature infants (as the mucosal structure has still not fully developed). The combined increase in osmolality of the faecal water, accelerated intestinal transit, and generated hydrogen and methane accounts for the wide range of gastrointestinal symptoms (e.g., abdominal pain, distension, diarrhoea, flatulence). Other factors related to the severity of symptoms include the rate of gastric emptying, fat content of the food in which the sugar is ingested, the individual sensitivity to intestinal distension produced by the osmotic load of unhydrolysed lactose in the small bowel, and the response of the colon to the carbohydrate load.

Answer 558

``` Black/native American/asian/hispanic Adolescence and early adulthood Fix lactase deficiency Enteritis/gastro-enteritis Comorbid pre-disposing disease - HIV enteropathy, sprue (coeliac or tropical), Whipple's disease, carcinoid syndrome, cystic fibrosis, diabetic gastropathy, kwashiorkor, Zollinger-Ellison syndrome, chemotherapy treatment, colchicine use (for familial Mediterranean fever), and radiation enteritis can all cause secondary disease. Hx IBS diagnosis ```

Answer 559

``` RFs Sx after ingestion of dairy - can be minutes - hours - >12hrs Diarrhoea Distension Lethargy Mouth ulceration Headache Poor short term memory/concentration Eczema Failure to thrive ``` ``` OTHER COMMON Abdominal pain, cramping, peri-umbilical Stomach rumbles Flatulence Palipitations ``` ``` Uncommon N+V Constipation Pallor WL Short stature ```

Answer 560

Trial of dietary lactose elimination FBC ``` CONSIDER Lactose hydrogen breath test if inconclusive Stool culture - N Faecal pH - reduced Fecal reducing substances - +ve ```

Answer 561

Diet mod Some dairy products are lower in lactose: hard cheeses, live-culture yoghurts, live-culture curds, live-culture cheeses, and milk-cereal mixtures. ``` Dietician consultation Lactase Rx dairy products Oral lactase supplementation Calcium Ergocalciferol ```

Answer 562

Osteoporosis Rickets Malnutrition Growth failure

Answer 563

Prognosis for patients with lactase deficiency with a clinical syndrome of lactose intolerance is excellent with lactose reduction. Persistent symptoms in a small number of patients are either due to ongoing inadvertent lactose exposure (especially from hidden lactose), irritable bowel syndrome, or poorly controlled underlying disorders of secondary lactase deficiency. Treatment is lifelong, and adherence may be a problem, especially in children.

Answer 564

Lactose intolerance

Answer 565

Coeliac disease is a systemic autoimmune disease triggered by dietary gluten peptides found in wheat, rye, barley, and related grains. Immune activation in the small intestine leads to villous atrophy, hypertrophy of the intestinal crypts, and increased numbers of lymphocytes in the epithelium and lamina propria. Locally these changes lead to gastrointestinal symptoms and malabsorption. Systemic manifestations are diverse, potentially affecting almost every organ system. Coeliac disease is common, affecting up to 1% of the general population, and may present at any age. Presentation is varied and ranges from diarrhoea and failure to thrive, to iron-deficiency anaemia or osteoporosis. Diagnosis is suggested by positive immunoglobulin A tissue transglutaminase serology, but must be confirmed by duodenal biopsy and histology. The only current therapy is a strict, lifelong gluten-free diet. Complications of untreated coeliac disease include gastrointestinal symptoms, malabsorption, increased risk of malignancy, and higher overall mortality than in the general population.

Answer 566

1% prevalence W>M Common age diagnosis = 40 BUT can be diagnosed t any age 20% of patients = "silent sufferers" 1% of coeliacs = "refractory" and untreatable by a gluten free diet

Answer 567

Almost all carry HLADQ2/DQ8 - genetic PREDISPOSITION IE most people who carry Dq2/8 do not get coeliacs Factors that have been hypothesised to play a role include: the timing of initial gluten exposure; gastrointestinal infection leading to gluten antigen mimicry; or direct damage to the intestinal-epithelial barrier leading to abnormal exposure of the mucosa to gluten peptides. Reovirus infection has also been shown to promote inflammatory immunity and a decrease in oral tolerance to gluten.

Answer 568

``` STRONG FHx IgA deficiency T1DM AI/thyroid ``` ``` WEAK Down's syndrome Sjorgren's syndrome IBD PBC ```

Answer 569

``` COMMON IgA deficiency Diarrhoea Bloating Abdo pain/discomfort Anaemia (ID) Dermatitis herpetiformis ``` ``` OTHER Osteopenia Fatigue WL Failure to thrive ``` ``` OTHER UNCOMMON Apthous stomatitis Easy bruising Ataxia Peripheral neuropathy (deficiencies of B12, E, or D; folate or pyridoxine) ```

Answer 570

FBC + smear - check for ID anaemia Anti TTG/endomysial/gliadin If dermatitis herpetiformis - skin biopsy Gluten challenge Biopsy - presence of intra-epithelial lymphocytes, villous atrophy, and crypt hyperplasia Small bowel endoscopy - atrophy and scalloping of mucosal folds; nodularity and mosaic pattern of mucosa

Answer 571

Gluten free diet Calcium, vit D, iron supplementation Dietician Coeliac crisis: Coeliac crisis is rare and presents with hypovolaemia, severe watery diarrhoea, acidosis, hypocalcaemia, and hypoalbuminaemia. Patients are often emaciated and have nutritional deficiencies caused by long-standing, untreated coeliac disease. - Give corticosteroids orally

Answer 572

``` Osteoporosis Dermatitis herpetiformis Malignancy - including intestinal and extra-intestinal lymphoma and carcinomas of the upper digestive tract. Idiopathic pancreatitis Pneumococcal infection ```

Answer 573

Most, up to 90% in some studies, will have complete and lasting resolution of symptoms on a gluten-free diet alone. For the 10% with persistent symptoms, most of these will be attributed to ongoing gluten exposure, lactose intolerance, and irritable bowel syndrome. Less than 1% can be expected to develop refractory coeliac disease.

Answer 574

An atrial septal defect (ASD) is an opening in the atrial septum, excluding a patent foramen ovale. There are 4 types of ASD: ostium secundum, ostium primum, sinus venosus, and unroofed coronary sinus. There are 4 types of atrial septal defect (ASD): ostium secundum, ostium primum, sinus venosus, and unroofed coronary sinus. Secundum defects are the most common. Most patients are asymptomatic. Untreated defects can produce right atrial enlargement, cardiac arrhythmias, and heart failure over time. Secundum, primum, and coronary sinus defects with small shunts (ratio of pulmonary flow to systemic flow, Qp:Qs, <1.5) do not require treatment. Corrective closure is required if the shunt is larger (Qp:Qs ratio ≥1.5), there is right atrial enlargement, or the patient has a sinus venosus defect. Corrective closure, if required, is usually performed at 2 to 4 years of age but can be performed at a younger age in symptomatic patients. Percutaneous device closure is the preferred treatment for secundum defects, and surgical closure is reserved for larger secundum defects, technically challenging cases, and other defects. If right-to-left shunting (Eisenmenger's syndrome) occurs, the ASD is operable if the shunt is reversible with pulmonary vasodilators. If the shunt is irreversible, the treatment is largely supportive.

Answer 575

ASDs occur in 1 of 1500 live births. Secundum-type ASDs constitute 6% to 10% of congenital heart defects M:F 1:2 Secundum defects account for 75% of ASDs. The other types of ASDs occur far less frequently: ostium primum (15% of ASDs), sinus venosus (5% of ASDs), and unroofed coronary sinus defects (1% of ASDs). ASDs can also occur in conjunction with more significant congenital heart defects.

Answer 576

Most cases of ASDs occur sporadically with no family history of congenital heart defects. Girls are more likely than boys to develop ASDs. Maternal alcohol consumption increases the risk of developing a range of congenital heart conditions, including ASDs. Some causative mutations have been identified. An association between ASDs and upper extremity anomalies was first reported in 1960. This particular association has been linked to mutations of TBX5. Rare cases of familial ASDs have been identified, caused by mutations in the transcription factors NKX2.5 and GATA4, as well as the structural protein MYH6. Inter-atrial blood flow is maintained throughout cardiac embryogenesis while two different septal structures form. The first septum to develop is septum primum. Programmed cell death in the anterosuperior aspect of septum primum results in an ostium secundum. Septum secundum then develops to the right of septum primum as an infolding of the right atrial wall and ultimately forms the limbus of the fossa ovalis, while septum primum functions as the valve of the fossa ovalis. [2] An abnormality during the development of these structures can result in an ASD. Ostium secundum-type ASDs develop due to a lack of development of septum secundum. Ostium primum-type ASDs develop due to lack of closure of ostium primum by the endocardial cushions. Sinus venosus-type ASDs are thought to occur because of resorption of the wall between the superior vena cava and pulmonary veins, which also explains why this type of ASD is associated with anomalous drainage of the right upper pulmonary vein. [1] Occasionally, sinus venosus ASDs can develop between the inferior vena cava and the right atrium. The direction of blood flow through the defect is related to the relative compliances of the two ventricles. In infancy, the right ventricle is relatively thick and non-compliant; therefore, the amount of left-to-right shunt is minimal. However, as the pulmonary vascular resistance decreases, the right ventricle becomes more compliant, increasing the left-to-right shunt. With age, the left-to-right shunt is exacerbated by increasing stiffness of the left ventricle associated with ageing and systemic hypertension. The right atrium, right ventricle, and pulmonary arteries may enlarge due to the increased volume load. The pulmonary and tricuspid valves may become incompetent due to enlargement of the valves' annuli. Despite the increased volume load, the pulmonary artery pressures are usually only slightly increased. However, the chronic volume overload can cause engorgement of the pulmonary arteries, capillaries, and veins. Some patients develop medial hypertrophy of the pulmonary arteries and pulmonary vascular obstructive disease. Patients become cyanotic if the shunt reverses.

Answer 577

STRONG Female Maternal alcohol consumption WEAK FHx

Answer 578

COMMON Ejection systolic murmur - Best heard at the left upper sternal border. The murmur often radiates to the back. Produced by excess volume of blood crossing the pulmonary valve. Fixed splitting of second heart sound - Second heart sound does not become single with expiration. ``` OTHER UNCOMMON Mid diastolic murmur Congestive cardiac failure - Rare presentation that usually does not occur until after the fifth decade of life. Failure to thrive Sx of atrial arrhythmias Cyanosis Finger clubbing ```

Answer 579

Echocardiogram - visualisation of the defect; determination of flow pattern and shunt volume ECG - normal; or tall p waves, large R waves in V1, crochetage pattern in inferior limb leads CxR - normal or enlarged heart with increased pulmonary markings CONSIDER Chest CT/MRI Cardiac catheterisation to determine pulmonary vascular resistance

Answer 580

LEFT TO RIGHT SHUNT - OBSERVE - Corrective closure - If the ratio of pulmonary to systemic blood flow, Qp:Qs, is or remains ≥1.5, or there is evidence of right atrial enlargement, the defect requires closure to prevent heart failure, atrial arrhythmias, and pulmonary vascular obstructive disease - Prophylactic ABx 6months - amoxicillin to prevent endocarditis ``` RIGHT TO LEFT SHUNT Reversible - Corrective closure + prophylactic ABx Irreversible (eisenmengers) - Bosentan/sildenafil/epoprostol - Phlebotomy for hyper viscosity (they increase RBC production to compensate for hypoxaemia) + HEART LUNG TRANSPLANT FOR EISENMENGERS ```

Answer 581

``` Device erosion Pericaridal effusion/tamponade Paradoxical embolisation (usually adults with undiagnosed -> whereby an embolus causes a TIA or stroke) Congestive HF Infective endocarditis AFibrillation ```

Answer 582

The prognosis of ASDs without pulmonary vascular obstructive disease is excellent. The risk of death after surgical closure of an uncomplicated ASD is <1%. Long-term survival for patients aged <24 years at surgery is similar to that of age-matched controls. Patients who have surgery at age >24 years have poorer survival than age-matched controls. Five- to 10-year follow-up after device closure is excellent, but long-term follow-up data are not available for device closure. The incidence of device erosion is 0.1% in the US, with most erosions occurring within 72 hours after placement. Shunt reversal with inoperable Eisenmenger's physiology is associated with a poor prognosis.

Answer 583

Atrioventricular septal defects (AVSDs) are anatomic defects that arise from faulty development of the embryonic endocardial cushions. This spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD, CAVSD). The terms atrioventricular canal defect and endocardial cushion defect are used in reference to this group of defects; however, atrioventricular septal defect is now the preferred terminology. These defects, particularly the complete form, typically present in the fetal or neonatal period and are an important source of cardiac morbidity and mortality in this age group.

Answer 584

2-9% of congenital heart disease M=F Seen more frequently in stillborns Roughly 1 in 1000 of Down syndrome babies

Answer 585

Most frequent genetic abnormality associated = trisomy 21 Can occur with trisomy 13 + 18 Can occur with heterodoxy syndromes Can rarely occur with digeorge

Answer 586

Advanced maternal age

Answer 587

``` Down's syndrome Sx Failure to thrive Tachypnoea Harrison grooves - horizontal depression along lower border of chest at diaphragm insertion site due to chronic tachypnea Prominent systolic heave ``` The first heart sound is single and often accentuated. The second heart sound is narrowly split, with an accentuated pulmonary component. A crescendo-decrescendo murmur may be audible at the upper left sternal border due to increased blood flow through a normal pulmonary valve. A mid diastolic rumble may be audible at the lower left sternal border and apex due to the increased flow across the common atrioventricular valve. A holosystolic murmur is often appreciated at the apex due to atrioventricular valve insufficiency. Because the VSD in complete atrioventricular septal defect is large and unrestrictive, it is not associated with a murmur.

Answer 588

No specific lab tests ECG - sinus rhythm May be prolonged PR (atrial enlargement), RVH, possible LVH, Chest radiography shows enlargement of the cardiac silhouette. Enlargement of the right atrium and right ventricle is most apparent. Evaluation of the left ventricle may be difficult because it is often displaced by the enlarged right ventricle. The main pulmonary artery segments are prominent, as well as the overall pulmonary vascular markings. In the setting of pulmonary vascular disease, the distal pulmonary vessels may have a lucent, pruned appearance. Echocardiography reveals defects of the atrial and ventricular septae. The subcostal 4-chamber and long axial oblique (modified left oblique) views reveal many important aspects of complete atrioventricular septal defect, including the size of the atrial and ventricular defects, the nature of the atrioventricular valve attachments, the distribution of atrioventricular valve tissue, and the left ventricular (LV) outflow tract (LVOT).

Answer 589

Diuretics, digoxin, ACE inhibitors -> used to alleviate tachypnoea and failure to thrive Surgical Single stage complete repair referred

Answer 590

Patients with complete atrioventricular septal defect typically develop tachypnea and failure to thrive in the first few months of life. Tachypnea hampers normal feeding. In addition, respiratory tract infections, such as those due to respiratory syncytial virus (RSV), are poorly tolerated. Without operation survival is poor. Death due to HF or pneumonia Childhood death from progressive pulmonary vascular obstructive diseases Intimal fibrosis Risk factors for surgical and late mortality and morbidity are identified. Preoperative risk factors for mortality include small size, unbalanced ventricular size, New York Heart Association class IV, and severe atrioventricular valve insufficiency. Published 10y survival = 80-90% Postoperative complications include arrhythmias, low cardiac output, pulmonary hypertension, atrioventricular valve stenosis, and mitral insufficiency.

Answer 591

Coarctation of the aorta is defined as a narrowing in the aorta, most commonly at the site of insertion of the ductus arteriosus, just distal to the left subclavian artery. Less commonly, there may be diffuse arch hypoplasia with a long segment of narrowing, proximal to the left subclavian artery, or the obstruction may be in the abdominal aorta. It is often associated with a diffuse arteriopathy and bicuspid aortic valve. It typically presents with upper extremity systolic hypertension or murmur. If the narrowing is severe, it may present in the newborn period once the ductus arteriosus closes as low cardiac output and shock (critical coarctation). Characterised by blood pressure differential between upper and lower extremities (upper >lower). Physical examination may show diminished, absent, or delayed lower extremity pulses compared with upper extremity pulses. Diagnosis is made by demonstration of aortic arch narrowing, typically by echocardiography. Treatment may be surgical repair or percutaneous balloon dilation or stent placement. Long-term complications include persistent hypertension or aneurysm formation at site of surgery or balloon.

Answer 592

6-8% of congenital heart defects F>M Sporadic cases mainly Often seen with bicuspid aortic valve or VSD There are also syndromic associations including Shone's complex, Turner's syndrome, DiGeorge syndrome, and hypoplastic left heart syndrome.

Answer 593

The aetiology of congenital coarctation is incompletely understood, but 2 primary theories explain the narrowed segment: The narrowed segment is under-developed during fetal life due to reduced blood flow across the developing arch. This is particularly thought to be responsible when associated with additional left-sided lesions such as hypoplastic left heart syndrome. Ductal tissue extends into the thoracic aorta, and, when the ductus arteriosus constricts and closes postnatally, the thoracic aorta is constricted. Much less commonly, aortic coarctation can be acquired. Takayasu arteritis, a large vessel vasculitis, can result in aortic coarctation. In these cases, the narrowed segment is often in the descending thoracic or abdominal aorta. Severe narrowing of the aortic arch that presents in the neonatal period with low output cardiac failure and shock once the ductus arteriosus closes is termed critical coarctation. These infants require a prostaglandin E1 infusion to maintain a patent ductus arteriosus and surgical repair after medical stabilisation.

Answer 594

``` Male Young (<10) Turners DiGeorge Hypoplastic left heartsyndrome Stones complex PHACE syndrome ``` WEAK FHx

Answer 595

COMMON HTN at young age Differential upper + lower extremity blood pressure Diminished lower extremity pulses OTHER COMMON Ejection systolic murmur - (left sternal border and back) Male predominance Claudication Headache (ICH/berry aneurysm association) Systolic ejection click (associated bicuspid valve)

Answer 596

1ST ECG - may be normal; show RVH or LVH CxR - age and severity dependent; may be normal, have cardiomegaly, or show posterior rib notching Echo - discrete narrowing in the thoracic aorta; pressure gradient across narrowing ADJUNCT/CONSIDER CT angiography MRI angiography Cardiac catheterisation - abnormal gradient across narrowing; therapeutic intervention possible

Answer 597

CRITICAL COARCTATION - MAINTAIN ductal patency by giving prostaglandin E1 - alprostadil - Surgical repair <1yo Surgical repair differs by case. May be end-end anastamosis Arch reconstruction Percutaneous repair is generally not recommended for children <1 year old, as recurrence rates are high. Additionally, stent placement is limited both by patient size and by the rapid growth seen during infancy. >1yo Percutaneous repair - potentially balloon angioplasty/stent insertion

Answer 598

CAD Systemic HTN Recoarctation after repair Aortic aneurysm

Answer 599

The overall prognosis for patients with isolated coarctation is excellent. Patients may require long-term treatment for hypertension, even in the absence of residual coarctation. Anti-hypertensives, including ACE-inhibitors, beta blockers and angiotensin II receptor blockade, have been utilised. Patients in whom the coarctation is associated with additional intra-cardiac defects typically are at higher risk of long-term problems related to the additional defects. Recoarctation may be seen in both surgically and transcatheter-treated patients; therefore, ongoing lifetime outpatient follow-up with cardiology is necessary. As patients age, careful follow-up with a cardiologist is imperative, as patients with aortic coarctation have a higher incidence of coronary artery disease.

Answer 600

Aortic coarctation

Answer 601

Aortic coarctation

Answer 602

Aortic coarctation

Answer 603

Patent ductus arteriosus (PDA) describes the persistence of a fetal structure, known as the ductus arteriosus, after birth. This vascular structure, which connects the main pulmonary artery to the aorta, allows blood to bypass the lungs in utero. In term infants it functionally closes, usually in the first 48 hours of life. A ductus arteriosus is a vascular fetal structure that usually closes in the first 48 hours after birth. Persistence of the ductus arteriosus can result in heart failure, increased pulmonary pressures, and endarteritis. The incidence and sequelae of a patent ductus arteriosus (PDA) are more significant in premature infants than infants born at full-term. Clinical history and presentation can vary significantly depending on age of the child and the size of the ductus. Patients may be entirely asymptomatic or have signs and symptoms of heart failure and haemodynamic instability. Treatment options vary depending on the age of the patient and the size of the ductus. Practice may vary significantly between institutions.

Answer 604

Preterm > term 1-2 per 1000 term births (NB clinically silent PDA) F>M High altitude > low altitude

Answer 605

In the fetus, the patency of the duct is maintained by a low-oxygen environment and circulating prostaglandins produced by the placenta (PGE2 and PG12). After birth, oxygen saturation increases and contributes to the constriction of the duct through potassium-mediated channels. Post-natally, the level of circulating prostaglandins falls as the placenta is removed from the circulation. In addition, pulmonary blood flow increases resulting in increased metabolism of prostaglandins. There may be several other unknown factors that contribute to ductal closure. Haemodynamic constriction is later followed by complete structural closure mediated by histological changes that obliterate the ductal lumen. While the process of ductal closure is fairly well understood, the factors that result in persistence of the ductus are less clear. In preterm infants, there may be a decreased response to oxygen and a continued sensitivity to prostaglandins when compared to term infants.

Answer 606

STRONG Prematurity Maternal rubella Female ``` WEAK RDS High altitude Fix Black ```

Answer 607

``` COMMON RFs Infancy presentation Tachypnoea / SOB Failure to thrive Exercise intolerance Widened pulse pressure ``` Gibson murmur or machinery murmur, is best heard in the left infraclavicular area and peaks in late systole and continues through into diastole. ``` Apnoea Low diastolic BP Irritability Diaphoresis (sweating) Inc freq URTI Murmur heard only during systole Hyperdynamic precordium Systolic thrill 3rd HS at apex Mid-diastolic rumble heard at apex Bounding peripheral pulses ``` UNCOMMON Pulmonary rales

Answer 608

CXR - cardiomegaly, increased pulmonary markings ECG - deep Q waves and tall R waves in leads II, III, Avf, V5, and V6. Sometimes widened P waves Echocardiogram - GOLD standard. Two-dimensional and/or colour Doppler evidence of a PDA. Diastolic forward flow in the pulmonary artery. Left ventricular and/or left atrial enlargement. Diastolic flow reversal in the distal aortic arch CONSIDER Cardiac catherisation - not usually performed. Presence of shunt and any co-existing cardiac abnormalities; pulmonary HTN.

Answer 609

Premature LBW infants are treated prophylactically - Indometacin 0.1mg/kg IV 3 day Premature infants <32w Indometacin OR Ibuprofen - inhibit prostaglandins (thought to be more effective) Term infants + children (small-mod ducts) Percutaneous catheter closure (usually >6months old, if under then wait as long as possible with furosemide Rx) Large ducts: Surgical ligation Adults: Percutaneous catheter device closure

Answer 610

Premature infants with a clinically significant PDA are at risk of increased mortality and morbidity from chronic lung disease, necrotising enterocolitis, and pulmonary haemorrhage. Full-term infants and children: Spontaneous closure of a patent ductus after 3 months of age is relatively rare. If a significant shunt is left untreated, it can result in the development of pulmonary obstructive disease that can become manifest as early as 15 months of life. Overall prognosis of these patients is very good and typically after closure, patients are well and the procedure is considered curative.

Answer 611

``` RDS NEC in prem Pulmonary haemorrhage in prem PHTN CHF Endarteritis Aneurysm of duct ```

Answer 612

patent ductus arteriosus

Answer 613

patent ductus arteriosus

Answer 614

patent ductus arteriosus

Answer 615

Pulmonary stenosis (PS) obstructs the blood flow from the right ventricle (RV) into the pulmonary bed, resulting in a pressure gradient greater than 10 mmHg across the pulmonary valve during systole. In 80% to 90% of all cases PS is found at the level of the valve, but it can also occur below the level of the valve or distally in the pulmonary arteries. PS is commonly associated with other forms of congenital heart disease. The increased subpulmonary ventricular pressure may lead to hypertrophy of the RV proportional to the degree of stenosis. Clinical symptoms range from none in mild PS to profound cyanosis and the potential for sudden death in critical PS. Mostly congenital. Symptoms ranging from none to profound cyanosis and the potential for sudden death. Systolic ejection murmur, loudest over left upper sternal border. Cyanotic patients treated with oxygen and prostaglandin E1 prior to diagnostic testing. Diagnosis confirmed and severity classified by echocardiography. Mild pulmonary stenosis is a benign condition requiring sequential cardiac follow-up but no therapy; prophylaxis for infective endocarditis not recommended. Percutaneous balloon pulmonary valvuloplasty (PBPV) indicated in moderate to severe/critical lesions. Surgical valvotomy reserved for treatment failure and contraindication to PBPV.

Answer 616

PS in association with other lesions is recognised in up to 30% of patients with congenital heart disease, and isolated PS has been estimated to occur in between 8% and 14% of all patients with congenital heart disease. In people with Noonan's syndrome, the isolated PS is frequently caused by a dysplastic pulmonary valve and has an incidence of up to 27%. Over the last 20 years, there has been a significant increase in the rate of PS diagnosed, potentially due to increased access to Doppler echocardiography. Compared with white people, black people have an increased rate of peripheral PS (5.35 versus 2.45 per 10,000 live births) and a statistical trend towards a higher incidence of valvular PS (4.48 versus 3.46 per 10,000 live births).

Answer 617

The majority of cases are congenital. Possible embryological explanations for PS vary from a malformation of the bulbus cordis to fetal endocarditis. A genetic abnormality is another possible aetiology, as PS is frequently associated with genetic syndromes such as Noonan's, LEOPARD, Williams', or Alagille's syndromes. Acquired PS is a rare condition associated with carcinoid syndrome, infectious endocarditis, myocardial tumours, and external compression. Carcinoid heart disease is caused by plaque formation on the endocardial surfaces of the right atrium and of the right valves, resulting in thickened and immobile valve leaflets.

Answer 618

``` STRONG Noonan syndrome LEOPARD syndrome Alagille syndrome Williams syndrome Congenital rubella syndrome ``` ``` WEAK Black Carcinoid syndrome Infectious endocarditis Myocardial tumours External compression ```

Answer 619

COMMON Pathological ejection systolic murmur with or without systolic click ``` OTHER UNCOMMON Rheumatic fever Dyspnoea - With/without exertion in severe or critical PS Chest pain - With/without exertion in severe or critical PS Syncope Features of associated syndromes Failure to thrive Cyanosis Sx of RHF RV heave Systolic thrill ```

Answer 620

1ST ECG - Routinely performed in all patients with a pathological murmur with/without respiratory distress - mild PS: normal in 30% to 65% or mild right axis deviation; moderate PS: right axis deviation (abnormal for age) and RV conduction delay (abnormal for age); severe/critical PS: extreme right axis deviation, R wave large for age, right atrial enlargement with tall and peaked P wave in lead II and in precordial leads V1 to V3 CXR - Routinely performed in all patients with a pathological murmur with/without respiratory distress. Usually normal; may show prominent main pulmonary artery shadow; marked cardiomegaly, right atrial and ventricular enlargement, and decreased pulmonary vascularity may be seen in severe disease Echo + doppler - abnormal morphology of valve; increased transvalvular gradient across pulmonary valve during systole (>10 mmHg). Hb + Hct - increased in cyanosis caused by right-to-left shunt, leading to erythrocytosis Pulse ox - LOW ABG - low PaO2

Answer 621

Acute Mild = observe Mod-severe 1. Percutaneous balloon pulmonary valvuloplasty 2. Surgical valvuloplasty + endocarditis prophylaxis IF NEONATES + CRITICAL + RESP DISTRESS/CYANOSIS Add Alpostadil + sup o2 - Cyanotic neonates who are unresponsive to oxygen can be treated with alprostadil (prostaglandin E1). This dilates arterioles and maintains patency of ductus arteriosus increasing blood flow to the lungs. Maximal effect seen in 30 minutes.

Answer 622

Mild = normal survival (a static lesion, highest risk of progression is during childhood) Mod/severe/critical PS Percutaneous valvuloplasty produces excellent short- and long-term results in reducing the pulmonary valve obstruction. The study identified the following independent risk factors for suboptimal outcome: higher initial pulmonary valvular gradient, high early residual gradient, dysplastic valve, and younger age at intervention.

Answer 623

``` Vascular laceration during surgery Tearing of pulmonary valve annulus due to valvuloplasty Pulmonary valve insufficiency RHF SCD Cardiac perforation Tricuspid insufficiency Death post-valvuloplasty ```

Answer 624

pulmonary stenosis

Answer 625

pulmonary stenosis

Answer 626

pulmonary stenosis

Answer 627

Tetralogy of Fallot (TOF) is a congenital cardiac malformation. The key morphological abnormality is anterior and cephalad deviation of the muscular outlet of the ventricular septum, which causes the 4 classic findings: (1) a mal-alignment ventricular septal defect (VSD), (2) aorta over-riding the VSD, (3) right ventricular outflow tract obstruction, (4) secondary concentric right ventricular hypertrophy. Historically, children with TOF presented with cyanosis that was progressive and life-limiting; untreated children with TOF would typically squat down, which would lead to increased pulmonary blood flow. Ventricular septal defect with over-riding aorta and right ventricular (RV) outflow tract obstruction and resulting RV hypertrophy. The common embryological cause for this constellation of findings is anterior and cephalad deviation of the muscular outlet of the ventricular septum. Usually presents in the neonatal period with a murmur, cyanosis, or both. Diagnosed by echocardiography. Treatment is by surgical repair. This usually consists of complete intracardiac repair typically during the neonatal or infant period. Occasionally, an aortopulmonary shunt is used palliatively before complete repair. The most common long-term complications of complete repair are progressive pulmonary regurgitation and RV failure, atrial arrhythmias, and ventricular arrhythmias. Acyanotic defects include atrial septal defects, isolated ventricular septal defects, and coarctation of the aorta. Cyanotic defects include TOF, total anomalous pulmonary venous return, transposition of great vessels, tricuspid atresia, persistent truncus arteriosus, and hypoplastic left-heart syndrome.

Answer 628

CHD is 3-4 per 1000 9 per 1000 congenital heart defects are TOF M>F No ethnic differences

Answer 629

``` WEAK Trisomy 21,18 or 13 Chromosome 22q11 deletions - DiGeorge Jagged1 gene mutations - Alagille's syndrome Mutation in NKX2.5 gene FHx congenital HD ``` Increasing evidence suggests environmental factors, such as maternal diabetes and phenylketonuria and maternal ingestion of retinoic acids and trimethadione, may play a significant causative role in certain cases of congenital heart disease.

Answer 630

Little is known about the exact aetiology of TOF. There is most likely to be interplay between genetic and environmental factors, but this has not been fully defined. Patients with trisomy 21, 18, or 13 have a higher incidence of TOF than infants without trisomy. 22q11 (DiGeorge's and associated syndromes) Increasing evidence suggests environmental factors may play a significant role in some cases of CHD. Maternal diabetes, maternal phenylketonuria, and maternal ingestion of retinoic acids or trimethadione have all been associated with an increased risk of CHD.

Answer 631

Hypercyanotic episodes - spells may present as episodic, increasing cyanosis in a baby with TOF. Rapid, deep crying Harsh ESM Tachypnoea UNCOMMON Shock

Answer 632

Pulse ox - low O2 sats Echo - infundibular pulmonary stenosis, over-riding aorta, non-restrictive ventricular septal defect, concentric RVH ECG - RVH with a rightwards axis, R in V1 and S in V6 above age-appropriate normals

Answer 633

Rx of HYPERCYANOTIC SPELLS Manouvres - Infant should be held in the parent's arms and positioned with the knees to the chest. BBlocker - propranolol 0.15-0.25mg/kg IV bolus, 2-8mg/kg/day oral LAST ICU option = Phenylephrine to increase systemic vascular resistance above pulmonary - blood flows through the pulmonary circulation, rather than across the ventricular septal defect and into the systemic circulation. Non-remitting severe cyanosis: If pulmonary blood flow is severely restricted may need to perform shunt or ECMO IF neonate with profound cyanosis -> give alprostadil ONGOING Complete surgical repair Monitoring with potential pulmonary valve replacement IE prophylaxis

Answer 634

PREVIOUS life expectancy was 12yo Current surgical outcomes are excellent with recent cohorts following complete repair showing survival rates of 100% at 1 month, 93% at 1 year, and 93% at 5 years. Freedom from reoperation rates were 100% at 1 month, 89% at 1 year, and 58% at 5 years. Once the patient has undergone complete surgical repair, the prognosis and any problems that occur may be related to the patient's individual anatomy and type of surgical repair, as well as any associated conditions. One study of survivors of the first year after surgical repair showed actuarial survival rates of 97% at 10 years, 94% at 20 years, 89% at 30 years, and 85% at 36 years. Common long-term complications are related to arrhythmias, progressive pulmonary outflow obstruction, and progressive pulmonary regurgitation resulting in right ventricular failure. Reasons for re-operation are based on progressive pulmonary obstruction and pulmonary regurgitation

Answer 635

``` Cyanotic spells Paradoxical emboli Progressive pulmonary regurg and RV failure Ventircular arrhythmias Atrial Arrhythmias SCD Congestive HF ```

Answer 636

Acyanotic defects include atrial septal defects, isolated ventricular septal defects, and coarctation of the aorta. Cyanotic defects include TOF, total anomalous pulmonary venous return, transposition of great vessels, tricuspid atresia, persistent truncus arteriosus, and hypoplastic left-heart syndrome.

Answer 637

Tetralogy of Fallot

Answer 638

Tetralogy of Fallot

Answer 639

Tetralogy of Fallot

Answer 640

Ventricular septal defects (VSDs) are congenital or acquired defects in the inter-ventricular septum that allow shunting of blood between the left and right ventricles. Eisenmenger's syndrome is shunt reversal (blood flowing from the right to the left ventricle) leading to the distribution of de-oxygenated blood to the systemic arterial circulation. A defect in the interventricular septum that allows shunting of blood between the left and right ventricles. Usually congenital, but rarely acquired after myocardial infarction or trauma. May be associated with other congenital defects such as tetralogy of Fallot. Significant left-to-right shunting results in pulmonary hypertension, which, if left untreated, can progress to shunt reversal with cyanosis and the Eisenmenger's syndrome. Small shunts may close spontaneously in childhood and can be managed by observation. Large shunts require surgical closure.

Answer 641

VSDs are among the most common congenital heart defects in infants and children, and an isolated VSD is seen in up to 3.5 infants per 1000 live births. Most of these close spontaneously in childhood. Type 2 (peri-membranous) defects are the most common VSDs, accounting for 70% of VSDs. Type 4 (muscular) defects account for 20%, while type 1 (supracristal or doubly committed juxta-arterial) defects and type 3 (inlet type) defects account for 5% each. Down's syndrome is commonly associated with atrioventricular septal defects, which are seen in between one third and one half of all patients. These may be atrial septal, ventricular septal, or both. Overall, atrioventricular septal defects are thought to be present in about 0.25 to 0.43 per 1000 live births. Acquired VSDs, due to MI or trauma, are rare.

Answer 642

Congenital VSDs are usually developmental congenital conditions. No definite cause is known. In families with a strong history of congenital cardiovascular malformations, the incidence of VSDs is increased. Certain genetic abnormalities have a high incidence of associated VSD, the most common being Down's syndrome, which is associated with congenital cardiovascular malformations in about 50% of cases. Acquired In rare cases, a VSD can occur as a result of acute MI. This usually occurs 2 to 5 days after the infarction and is marked by the onset of acute left-heart failure, chest pain, low cardiac output and shock.

Answer 643

STRONG FHx Downs (TRI21) WEAK Maternal alcohol use in pregnancy

Answer 644

Pansystolic murmur in the left parasternal region - This murmur is generally holosystolic and does not increase with inspiration (unlike tricuspid regurgitation). The murmur is generally easily heard; a smaller defect generally results in a louder murmur. Failure to thrive - Congenital heart disease should always be excluded in infants and children with unexplained failure to thrive. SOB OTHER COMMON Recurrent pulmonary infections Loud P2 ``` UNCOMMON Cyanosis (shunt reversal AKA Eisenmenger's syndrome) Clubbing Recent MI Recent trauma ```

Answer 645

1st Echo - VSD visualised and diagnosed on 2D views; left-to-right shunt confirmed by the presence of a high-velocity jet across the VSD on colour Doppler CXR - ranges from normal to cardiomegaly and increased pulmonary vascular markings to peripheral pruning of vascular markings ECG - not diagnostic but - The ECG may be normal in small, non-restrictive defects. In moderate-sized defects, there may be evidence of left ventricular and also sometimes left atrial enlargement. In cases of larger shunts, there may be evidence of bi-ventricular hypertrophy. In a few patients, there may be predominant right ventricular hypertrophy. CONSIDER Cardiac MRI Cardiac catheterisation - measurement of pulmonary artery pressures; demonstration of the location and degree of shunting

Answer 646

SMALL In cases of small restrictive VSDs with Qp to Qs shunt ratio of <1.5, observation and follow-up is all that is generally indicated. + Endocarditis prophylaxis - amoxicillin/clindamycin MEDIUM/LARGE Corrective closure - Indicated when Qp to Qs shunt ratio is >1.5, PA systolic pressure >50 mmHg, increased LV and left atrial size, or deteriorating LV systolic function. The usual procedure is open surgery in which a patch (bovine pericardium or synthetic material) is used to close the VSD. + Endocarditis prophylaxis - amoxicillin/clindamycin LEFT-RIGHT SHUNT Medicines include diuretics, and in some cases angiotensin-converting enzyme (ACE) inhibitors and digoxin. + corrective closure + Endoprophylaxis EISENMENGER SYNDROME MUST GIVE PULMONARY VASODILATORS: - Bosentan/sildenafil/epoprostol NB bosentan = endothelin1 antagonist Heart-lung transplantation

Answer 647

Patient outlook depends on the size of the defect. Asymptomatic restrictive ventricular septal defect This type, found in infants, closes spontaneously in about 50% of cases. Others are likely to remain asymptomatic. Moderate-sized restrictive defect May be asymptomatic on presentation. If left untreated over the long-term, many will develop pulmonary hypertension and later, symptoms of congestive heart failure. If treated with closure, these patients overall have an excellent outcome. Large-sized non-restrictive defects These tend to produce early pulmonary hypertension and early heart failure symptoms requiring early closure. If not closed, patients may develop severe pulmonary hypertension with reversal of blood shunting, resulting in cyanosis and Eisenmenger's syndrome, which is then inoperable and associated with a poor prognosis.

Answer 648

Aortic regurgitation Complication of surgery = heart block Post-operative dysrhytmias Infective endocarditis

Answer 649

Transposition of the great arteries is a serious but rare heart defect present at birth (congenital), in which the two main arteries leaving the heart are reversed (transposed). The condition is also called dextro-transposition of the great arteries. A rarer type of this condition is called levo-transposition of the great arteries Transposition of the great arteries changes the way blood circulates through the body, leaving a shortage of oxygen in blood flowing from the heart to the rest of the body. Transposition of the great arteries is usually detected either prenatally or within the first hours to weeks of life.

Answer 650

Transposition of the great arteries occurs during fetal growth when your baby's heart is developing. Why this defect occurs is unknown in most cases. Although some factors, such as genetics, rubella or other viral illnesses during pregnancy, maternal age over 40, or maternal diabetes, may increase the risk of this condition, in most cases the cause is unknown.

Answer 651

A history of German measles (rubella) or another viral illness in the mother during pregnancy Drinking alcohol during pregnancy Smoking during pregnancy A mother who has poorly controlled diabetes Genetics, rubella or other viral illnesses during pregnancy, maternal age over 40, or maternal diabetes, may increase the risk of this condition

Answer 652

Cyanosis SOB Lack of appetite Poor weight gain

Answer 653

Echo - visualisation Cardiac catheterisation - only done if echo inconclusive. Cardiac catheterization may be done urgently to perform a temporary treatment for transposition of the great arteries (balloon atrial septostomy). CXR - cardiomegaly

Answer 654

Alprostadil - maintains PDA Atrial septostomy - emergency Surgery Arterial switch operation

Answer 655

Narrowing of coronary arteries Arrhythmias Heart muscle weakness or stiffness leading to heart failure Narrowed connections where the great vessels are connected Regurgitation

Answer 656

Hypoxia HF Damage to lungs from hypoxia

Answer 657

Inflammation of the leptomeninges surrounding the brain and spinal cord. Meningitis commonly refers to inflammation of the arachnoid matter and CSF. Infection of the meninges usually follow bacteraemia • Inflammation and endothelial damage à cerebral oedema • ICP • Dec Cerebral blood flow -> CEREBRAL CORTICAL INFARCTION • Fibrin deposits block CSF resorption by the arachnoid villi -> hydrocephalus

Answer 658

Peak incidence >2months

Answer 659

Viral most common Bacterial = medical emergence Non infectious causes: malignancy and A/I disease Failure to respond to Rx: consider mycoplasma or B.burgdoferi or fungi

Answer 660

Immunodeficiency (inherited/acquired) Structural abnormalities of the skull or meninges Malignancy and autoimmune conditions Exposure to meningococcus/ HiB Recent infection Travel Penetrating head trauma/ recent neurosurgical procedure

Answer 661

``` Older children: Fever Headache Photophobia N&V Kernig’s sign + Neck stiffness Confusion Lethargy Irritability ``` ``` <1yo: Fever/ hypothermia Lethargy Respiratory distress Jaundice Poor feeding D&V Seizures Bulging fontanelle Irritability and restlessness ``` Raised ICP sign: May cause CUSHINGs triad: Bradycardia, hypotension, abnormal breathing patter Late Sx of raised ICP: Papilloedema, bulging fontanelle in infants, opisthotonus (hyperextension of head and back) NB Febrile purpura = meningiococcal sepsis until proven otherwise Kernigs sign = flexion at hip causes flexion of neck. Knee cannot be fully extended Brudzinskis sign = passive flexion of neck causes flexion of both legs/thighs

Answer 662

FBC + U+E + Glucose/creatinine LFTs Blood cultures Clotting (if purpura) Blood gas (lactate/acidosis) Septic screen = MCS, blood, throat swab, urine, stool, CSF LP - if no contraindications Rapid antigen testing: blood/CSF/Urine Consider CT/MRI CSF PCR

Answer 663

If in primary care: GIVE IM BENZYLPENICILLIN Rapid ABCD Establish IV access + bolus fluids 20-40ml/kg if in shock Empirical ABx = vancomycin 15mg/kg + ceftriaxone 50mg/kg Glucose if hypoglycaemic Correct acidosis / Rx seizures Supportive - Fluid resus if needed - Regular PEWS scoring - Daily euro-exam - Daily head circumference if <18month old Beyond neonatal period dexamethasone administered as well to minimise neurological sequelae Household contacts of patients who have had group C meningococcal meningitis should be vaccinated

Answer 664

Neurological: seizures, ICP, cerebral oedema, ischemia, cerebral abscess, hydrocephalus Disseminated illness: Arthritis, vasculitis, pericarditis

Answer 665

5-10% mortality About 15% of children who survive bacterial meningitis develop severe sequelae such as sensorineural hearing loss, motor problems, seizures, and mental retardation 20% to 30% of children have more subtle adverse outcomes such as cognitive, academic, and behavioral problems. Up to one third of adults who have had bacterial meningitis have cognitive impairment.

Answer 666

Inflammation of the brain parenchyma which manifests with altered neurological function (altered mental status/behaviour/ motor and sensory deficits/ seizure)

Answer 667

<28days old - increased risk of CMV, HSV + Rubella Summer - enteroviruses Winter - post infectious encephalitis Blood transfusion - CMV EBV

Answer 668

1. Direct invasion of the cerebrum by a neurotoxic virus (e.g. HSV) 2. Delayed brain swelling following a disordered neuroimmunological response to an antigen, usually a virus (post-infectious encephalopathy) e.g. following chickenpox 3. A slow virus infection, e.g. HIV or subacute sclerosing panencephalitis (SSPE) following measles Enteroviruses, respiratory viruses and herpes virus (UK) Mycoplasma, Borrelia burgdoferi, Bartonella henselae, rickettsial infections and the arboviruses (worldwide)

Answer 669

``` Travel Contact Immunisations Immunodeficiency Recent viral infections Animal/insect bites ```

Answer 670

Fever Seizure Decreased conscious level Clinically similar to meningitis sometimes DIAGNOSTIC CRITERIA 1. Altered mental status >24hrs with no alternative cause diagnosed 2. >2 of the following: - Fever >38 with 72hrs of presentation - New onset seizures - New onset focal neurology - CSF WBC >5 - Abnormal neuroimaging/EEG

Answer 671

Bloods: FBC, U+Es, BUN, ALT, glucose, coagulation studies LP: pleiocytosis (lymphocyte predominant), RBC = HSV infection Imaging: EEGm+ CT/MRI GOLD STANDARD = PCR of CSF Exclude other causes: • Blood culture • CSF gram stain + culture (acid fast stain for ?TB) • Urine and serum toxicology • Metabolic studies: serum ammonia, lactate and Ph • Antibody titres • Brain biopsy

Answer 672

Manage by ABC initially Empirical acyclovir - If HSV confirmed then continue Rx for a further 3/52 Supportive: Stabilise cardiorespiratory system Treat ongoing seizures Monitor: Cardiorespiratory status, neurological status (GCS), fluid balance and electrolytes (SIADH may ensue) EBV/VZV - consider methylprednisolone sodium succinate

Answer 673

Death Autonomic/hypothalamic dysfunction Ischaemic stroke Encephalitis lethargica (Von Economo's disease) Neurological sequelae Seizures Cerebral haemorrhage, thrombosis, vasculitis, hydrocephalus, chronic fatigue syndrome

Answer 674

Prognosis is often bleak. Mortality and morbidity vary depending on the underlying aetiology, the immune status of the host, the extent and location of anatomic lesions, the development of complications, and the time to initiate treatment. Roughly 10% mortality Age >65 years old, immunocompromised (HIV or immunosuppressive medication-induced), mechanical ventilation, coma, acute thrombocytopenia, elevated CSF polymorphonuclear count, cerebral oedema, and status epilepticus are associated with poor outcomes. In children, long-term morbidity occurs in up to two-thirds of patients. This includes fatigue, cognitive impairment, attention and deficit disorders, dysphasia, motor impairment, ataxia, epilepsy, and personality changes. Post-encephalitic epilepsy occurs in 10% by 5 years and 20% by 20 years.

Answer 675

Encephalitis

Answer 676

Encephalitis

Answer 677

Bacterial meningitis

Answer 678

Bacterial meningitis

Answer 679

Bacterial meningitis

Answer 680

Conduct disorder (CD) is a mental disorder diagnosed in childhood or adolescence that presents itself through a repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate norms are violated. These behaviors are often referred to as "antisocial behaviors." It is often seen as the precursor to antisocial personality disorder, which is per definition not diagnosed until the individual is 18 years old.

Answer 681

51.1 million people globally 1-10% of children Incarcerated youths: 23-87%

Answer 682

Child abuse Prenatal alcohol abuse Maternal smoking in pregnancy Associated with: ADHD Substance abuse Learning disabilities and language impairment Oppositional defiance disorder "a pattern of angry/irritable mood, argumentative/defiant behavior, or vindictiveness" in children and adolescents. Unlike children with conduct disorder (CD), children with oppositional defiant disorder are not aggressive towards people or animals, do not destroy property, and do not show a pattern of theft or deceit. ``` PROTECTIVE FACTORS Female High IQ Positive social orientations Good coping skills Supportive family/community relationships ```

Answer 683

Low level of fear Lashing out at others Aggression Antisocial behaviour ``` Childhood onset type (symptoms before 10yo): Often associated ADHD Academic problems Increased family dysfunction Increased aggression/violence ``` Adolescent onset type: Less impairment that childhood-onset Rebellion against authority figures Rejection of conventional values

Answer 684

Diagnosed according to DSM-V: It is diagnosed based on a prolonged pattern of antisocial behaviour such as serious violation of laws and social norms and rules in people younger than the age of 18. FOUR CATEGORIES PRESENT: aggression to people and animals, destruction of property, deceitfulness or theft, and serious violation of rules.

Answer 685

The most effective treatment for an individual with conduct disorder is one that seeks to integrate individual, school, and family settings. Additionally, treatment should also seek to address familial conflict such as marital discord or maternal depression.

Answer 686

25-40% of youths with conduct disorder will develop antisocial personality disorder.

Answer 687

Global developmental delay is an umbrella term used when children are significantly delayed in their cognitive and physical development. It can be diagnosed when a child is delayed in one or more milestones, categorised into gross motor, fine motor and visual, hearing-language-speech, and social

Answer 688

``` Learning disabilities Downs syndrome Fragile X Childhood meningitis/encephalities Hypothyroidism Fetal alcohol syndrome ADHD Absence seizures Tuberous sclerosis ``` Inborn errors of metabolism: ``` Medium-chain acyl-CoA dehydrogenase deficiency Homocysteinuria Congenital hypothyroidism Isovaleric acidaemia Glutaricaciduria type 1 Maple syrup urine disease [all tested for on Guthrie] ```

Answer 689

Delayed milestones: Limit ages: represents 2 SDs above median o Primitivereflexes § Persistence beyond 6 months o Grossmotor § Head control – 4 months § Sits unsupported – 9 months § Stands independently – 12 months § Walks independently – 18 months o Visionandfinemotor § Fixes and follows – 3 months § Reaches for objects – 6 months § Transfers objects between hands – 9 months § Pincer grip – 12 months ``` o Hearing,languageandspeech § Polysyllabic babble – 7 months § Consonant babble – 10 months § Saying 6 words with meaning – 18 months § Joins words – 2 years § 3 word sentances – 2.5 years ``` o Socialbehaviour § Smiles – 8 weeks § Fear of strangers – 10 months § Feeds self /spoon – 18 months § Symbolic play – 2/2.5 years § Interactive play – 3-3.5 years

Answer 690

Developmental screening + history can diagnose 1/3rd of cases Other tests: Chromosomal microarray + karyotyping (looking for trisomy, microdeletions, and duplications, most sensitive test) Specific gene disorders eg Rett Targeted MRI brain - more likely to contribute to a diagnosis if the child has abnormal physical signs such as microcephaly, macrocephaly, a change in head circumference, focal neurological signs, or epilepsy. Neonatal Guthrie testing: ``` Medium-chain acyl-CoA dehydrogenase deficiency Homocysteinuria Congenital hypothyroidism Isovaleric acidaemia Glutaricaciduria type 1 Maple syrup urine disease ```

Answer 691

The specific management of children with global developmental delay will depend on their individual needs and underlying diagnosis. Early intervention is essential to support the child to reach their full potential. Specialists involved in the management of GDD in children include: Speech therapists Hearing specialists Developmental paediatricians Neurologists Providers of Early Intervention Services (depending on location) As well as involving professionals, parents can support the development of their child by playing with them, reading with them, showing them how to do tasks, and supporting them to participate in activities of daily living such as washing, dressing, and eating

Answer 692

``` Medium-chain acyl-CoA dehydrogenase deficiency Homocysteinuria Congenital hypothyroidism Isovaleric acidaemia Glutaricaciduria type 1 Maple syrup urine disease ```

Answer 693

``` Medium-chain acyl-CoA dehydrogenase deficiency Homocysteinuria Congenital hypothyroidism Isovaleric acidaemia Glutaricaciduria type 1 Maple syrup urine disease ```

Answer 694

A vertically transmitted infection is an infection caused by pathogens (such as bacteria and viruses) that uses mother-to-child transmission, that is, transmission directly from the mother to an embryo, fetus, or baby during pregnancy or childbirth. It can occur when the mother gets an infection as an intercurrent disease in pregnancy. Nutritional deficiencies may exacerbate the risks of perinatal infection.

Answer 695

Transplacental transmission or during childbirth Contact with ill Amniocentesis Trauma Childbirth

Answer 696

``` T – Toxoplasmosis / Toxoplasma gondii O – Other infections (see below) R – Rubella C – Cytomegalovirus H – Herpes simplex virus-2 or neonatal herpes simplex "Other infections" include: ``` ``` Parvovirus B19 Coxsackievirus Chickenpox (caused by varicella zoster virus) Chlamydia[1] HIV[2][3] Further information: HIV and pregnancy Human T-lymphotropic virus[4] Syphilis[5] Zika fever, caused by Zika virus, can cause microcephaly and other brain defects in the child.[6] ``` SOME PROPOSE ``` C – Chickenpox and shingles H – Hepatitis, C, (D), E E – Enteroviruses A – AIDS (HIV infection) P – Parvovirus B19 (produces Hydrops fetalis secondary to aplastic anemia) T – Toxoplasmosis O – Other (Group B Streptococcus, Listeria, Candida, Lyme disease) R – Rubella C – Cytomegalovirus H – Herpes simplex E – Everything else sexually transmitted (gonorrhea, Chlamydia infection, Ureaplasma urealyticum, human papillomavirus) S – Syphilis ```

Answer 697

``` MOTHER Flu-like Sx Asymptomatic Fever Petechial rash SGA baby Hepatosplenomegaly Jaundice ``` ``` Neonatal effects: Hearing impairment Eye problems Mental retardation Autism Death ```

Answer 698

Blood, urine and CSF rested for evidence of aforementioned pathogens Cultured or specific IgM testing

Answer 699

Toxoplasmosis + syphilis = Rx with ABx Rubella + VZV can be prevented by vaccinating the mother Malaria prophylaxis If mother has +ve Pap test at cervical screening, delivery by CS can be indicated

Answer 700

Each type of vertically transmitted infection has a different prognosis. The stage of the pregnancy at the time of infection also can change the effect on the newborn.

Answer 701

Each type of vertically transmitted infection has a different prognosis. The stage of the pregnancy at the time of infection also can change the effect on the newborn.

Answer 702

Intellectual impairment may be either generalised (cognitive impairment) or specific to one area (learning difficulty). Children with cognitive impairment have below-average IQ, at <70. The degree of cognitive impairment depends on the underlying disorder and its severity. An IQ of 50 to 70 is classed as mild cognitive impairment. Children with a specific learning difficulty, on the other hand, have difficulties with particular mental tasks but a normal IQ. Examples include difficulties with speech (specific language impairment), reading and writing (dyslexia), and use of numbers (dyscalculia). Although the terms 'learning difficulty' and 'cognitive impairment' have specific definitions, they are sometimes used interchangeably by clinicians.

Answer 703

1% children have cognitive impairment Downs syndrome and fatal alcohol syndrome = most common 10% have learning disability Dyslexia is the most common specific learning disability (affecting about 5% to 12% of children).

Answer 704

Can be congenital or acquired: Developmental causes include a range of genetic conditions (such as Down's syndrome or autism spectrum disorders), intra-uterine infections, fetal alcohol syndrome, teratogenic drugs, premature birth, and congenital hypothyroidism. Acquired causes include central nervous system (CNS) infections (bacterial meningitis, encephalitis), CNS tumours, hypoxia, traumatic brain injury, and psychosocial deprivation. Intrauterine infections - TORCH Perinatal events: Extreme prematurity Perinatal hypoxia Congenital hypothroidism Phenylketonuria Deprivation ``` Learning difficulties can be specific without generalised cognitive impairment: ADHD Dyslexia Dyscalculia Specific language impair Central auditory processing disorder Dyspraxia ``` ``` Genetic: Downs Fragile X Prader Willi Angelmans Williams Retts Turners Tuberous sclerosis DiGeorge Autism ```

Answer 705

Isolated / combination of delayed milestones Oblique palpebral fissures, median epicanthic fold, low nasal bridge, low-set ears, central iris Brushfield spots, short curved fifth finger, and a single palmar crease are characteristic of Down's syndrome. Macrocephaly, long face, high arched palate, prominent jaw, epicanthic folds, macro-orchidism, and large ears are characteristic of fragile X syndrome. Strabismus may also be present. Short stature, hypotonia, small hands and feet, and incomplete sexual development, often with cryptorchidism, are characteristic of Prader-Willi syndrome. Widely spaced teeth, long philtrum, wide mouth, and full lips are seen in William's syndrome. Cleft palate, micrognathia, low-set ears, and facial dysmorphism are seen in DiGeorge syndrome. Short stature, low-set ears, webbed neck, low hairline, and cubitus valgus are characteristic of Turner's syndrome. Skull deformity is seen in craniosynostosis. Skin examination: signs of tuberous sclerosis, such as facial fibroangiomata or periungual lesions, may be seen. Neurological examination: common subtle findings in children with specific learning disabilities include synkinesias (involuntary movements of one body part when moving another, such as mirror movements of the left hand when moving the right), difficulty with voluntary saccades, dystonic posturing with stress gait, and mild hyperreflexia. Other neurological signs are usually, but not always, in keeping with the developmental history. Spasticity, or variable tone, is likely to be due to cerebral palsy. Hypotonia is most likely to be associated with a genetic disorder (e.g., Down's syndrome). Focal signs suggest intracerebral pathology. Measurement of head circumference: microcephaly suggests a developmental disorder, which may be either genetic or acquired. Macrocephaly suggests a developmental disorder (such as fragile X syndrome or tuberous sclerosis), a metabolic disorder (such as glutaric aciduria), certain leukodystrophies (such as Alexander disease and Canavan disease), or possibly hydrocephalus, which is most commonly associated with structural brain abnormalities or a history of meningitis or intraventricular haemorrhage. Ophthalmoscopy may aid in the diagnosis of congenital infections of the CNS (e.g., toxoplasma or cytomegalovirus [CMV]) and in some genetic disorders associated with cognitive delays (e.g., retinal or peripapillary astrocytic hamartomas in tuberous sclerosis).

Answer 706

Neurodevelopmental history + milestones The ages and stages questionnaire Congenital hypothyroidism normally screened for (2-4days) Guthrie for phenylketonuria IU infection tasing CSF cytology if suspect meningitis/neuro infection Genetic testing for syndrome Skull XRAY if craniosynostosis Abnormality in neuro exam = MRI preferred

Answer 707

Treat causes Enable EIS Referral to learning disability specialist CAMHs

Answer 708

Treat causes Enable EIS Referral to learning disability specialist CAMHs

Answer 709

Type 1 diabetes mellitus is a metabolic disorder characterised by hyperglycaemia due to absolute insulin deficiency. The condition develops due to destruction of pancreatic beta cells, mostly by immune-mediated mechanisms. In some patients there may be no evidence of autoimmune destruction of pancreatic beta cells; this is called idiopathic type 1 diabetes. Type 1 diabetes mellitus is a metabolic disorder characterised by hyperglycaemia due to absolute insulin deficiency. Patients most often present with a few days or weeks of polyuria, polydipsia, weight loss, and weakness. Some patients may present with diabetic ketoacidosis. Intensive glycaemic control has been shown to decrease the incidence of microvascular and macrovascular complications. Microvascular complications include retinopathy, nephropathy, and neuropathy. Macrovascular complications include coronary artery, cerebrovascular, and peripheral vascular disease.

Answer 710

5-10% of all diabetics 130k diagnosed each year WW incidence increase by 3% per yr

Answer 711

HLA DR/DQ polymorphisms Associations with congenital rubella + human enteroviruses Supplementation with vitamin D may be protective Up to 90% of patients will have autoantibodies to at least one of 3 antigens: glutamic acid decarboxylase; insulin; and a tyrosine-phosphatase-like molecule, islet auto-antigen-2 (IA-2). HLADQ2 associated with coeliac + DM

Answer 712

STRONG HLA risk profile for DM = high in Finland WEAK Genetic predisposition Infectious agents Dietary factors (Further research is required to determine whether cow’s milk, early introduction of cereals, or maternal vitamin D ingestion increase type 1 diabetes risk.)

Answer 713

COMMON RFs Polyuria Polydipsia ``` OTHER COMMON Young age (typically 5-15yo) WL Blurred vision N+V Abdominal pain - DKA Tachypnoea - DKA Lethargy - DKA ``` UNCOMMON Coma - DKA

Answer 714

Random plasma glucose - >11.1 (Confirms diagnosis in presence of symptoms of polyuria, polydipsia, and unexplained weight loss.) Fasting plasma glucose - > 6.9mmol/L (>8hrs no calories) 2 hour plasma glucose after OGTT 75g load - >11.1 Plasma or urine ketones - confirms type 1 in the presence of hyperglycaemia HBA1c - ≥48 mmol/mol (≥6.5%) Fasting C peptide - low or undetectable (byproduct - levels reflect insulin production) A/I markers - These include autoantibodies to glutamic acid decarboxylase, insulin, islet cells, islet antigens (IA2 and IA2-beta), and the zinc transporter ZnT8. +ve

Answer 715

Basal-bolus insulin: Insulin glargine SC OD Insulin determir SC BD AND Insulin aspart/lispro injected pre-meal OR Pump INITIAL CHILD DAILY DOSE 0.5-1 unit per day, may increase in puberty Adjunct = pre-meal insulin correction dose IF UNCONTROLLABLE POST PRANDIAL HYPERGLYCAEMIA -> add amylin analogue: Pramlintide 15-60micrograms Fixed-dose insulin is used when patients are already doing well on a fixed-dose regimen; or cannot manage 3 to 4 insulin injections daily; or have trouble mixing insulin. insulin aspart protamine/insulin aspart: (70/30) injected subcutaneously twice daily insulin lispro protamine/insulin lispro: (50/50, 75/25) injected subcutaneously twice daily

Answer 716

Untreated = fatal due to DKA

Answer 717

Poorly controlled type 1 diabetes is a risk factor for chronic complications such as blindness, renal failure, foot amputations, and heart attacks. Intensive glycaemic control has been shown to decrease the incidence of microvascular and macrovascular disease in type 1 diabetes, and the decreased incidence of macrovascular disease has been shown to persist for up to 30 years. Aim HBa1c <7% or 53mmol/mol Overall, cardiovascular disease is the major cause of death and a major cause of morbidity for patients with diabetes. One analysis of patients with type 1 diabetes diagnosed before the age of 15 years found that the leading cause of death before the age of 30 years was acute complications of diabetes. After the age of 30 years cardiovascular disease was predominant, although death attributable to acute complications was still important in this age group. Diabetic kidney disease - most common cause of ESRD

Answer 718

Diabetic ketoacidosis (DKA) is an acute metabolic complication of diabetes that is potentially fatal and requires prompt medical attention for successful treatment. It is characterised by absolute insulin deficiency and is the most common acute hyperglycaemic complication of type 1 diabetes mellitus. Hyperglycaemia Ketosis Acidosis Diabetic ketoacidosis (DKA) is characterised by a biochemical triad of hyperglycaemia, ketonaemia, and acidaemia, with rapid symptom onset. Common symptoms and signs include polyuria, polydipsia, polyphagia, weakness, weight loss, tachycardia, dry mucous membranes, poor skin turgor, hypotension, and, in severe cases, shock. Successful treatment includes correction of volume depletion, hyperglycaemia, electrolyte imbalances, and comorbid precipitating events, with frequent monitoring. Complications of treatment include hypoglycaemia, hypokalaemia, hypoxaemia, and rarely pulmonary oedema. Cerebral oedema, a rare but potentially rapidly fatal complication, occurs mainly in children. It may be prevented by avoiding overly rapid fluid and electrolyte replacement.

Answer 719

4% mortality | Up to 16-30% of new onset diabetes presents with DKA

Answer 720

In DKA, there is a reduction in the net effective concentration of circulating insulin along with an elevation of counter-regulatory hormones (glucagon, catecholamines, cortisol, and growth hormone). These alterations lead to the extreme manifestations of metabolic derangements that can occur in diabetes. The two most common precipitating events are inadequate insulin therapy and infection. Underlying medical conditions such as MI or stroke that provoke the release of counter-regulatory hormones are also likely to result in DKA in patients with diabetes. Drugs that affect carbohydrate metabolism, such as corticosteroids, thiazides, pentamidine, sympathomimetic agents (e.g., dobutamine and terbutaline), second-generation antipsychotic agents, and immune checkpoint inhibitors may contribute to the development of DKA. The use of sodium-glucose co-transporter 2 (SGLT-2) inhibitors has also been implicated in the development of DKA in patients with both type 1 and type 2 diabetes.

Answer 721

STRONG Inadequate or inappropriate insulin therapy Infection MI ``` WEAK Pancreatitis Stroke Acromegaly Hyperthyroidism DRUGS: corticosteroids, thiazides, pentamidine, sympathomimetics, second-generation antipsychotics, cocaine, immune checkpoint inhibitors, or SGLT2 inhibitors (drugs affecting carbohydrate metabolism) ``` Cushings Hispanicblack ancestry Bariatric surgery

Answer 722

COMMON ``` Sx of hyperglycaemia: Polyuria Polyphagia Polydipsia WL Weakness N+V (correlate with the degree of acidosis and may be confused with acute abdominal crisis) Abdominal pain (correlate with the degree of acidosis and may be confused with acute abdominal crisis) Dry mucous membranes Poor skin turgor Sunken eyes Tachycardia Hypotension Kussmaul Acetone breath Altered mental status ``` UNCOMMON Hypothermia

Answer 723

Plasma glucose - High (usually >13.9) ABG - acidosis central to diagnosis, dec bicarbonate Capillary or serum ketones - beta-hydroxybutyrate elevated ≥3.8 mmol/L (≥0.04 mg/dL) in adults or ≥3.0 mmol/L (≥0.031 mg/dL) in children Urine dip - glycosuria/ketonuria, may be leukocytes/nitrites if concomitant infection Serum urea - Elevated Creatinine - elevated Sodium - low Potassium - usually high Chloride - usually low Calcium + mag - usually low Phosphate - normal or elevated Anion gap - raised Serum creatine phosphokinase - elevated if rhabdomyolysis (differentiate) Serum lactate - elevated LFT - N Amylase - elevated Lipase - N (differentiate from acute pancreatitis) Serum osmolality - variable FBC - elevated WCC can occur with concomitant infection

Answer 724

General Rx: IV fluids Consider ICU if haemodynamic instability or cardiogenic shock, altered mental status, respiratory insufficiency, and severe acidosis. Intubation and mechanical ventilation are commonly required, with constant monitoring of respiratory parameters. Correct: Potassium Bicarbonate Phosphate ADD INSULIN once serum potassium 3.3mmol/L

Answer 725

The mortality rate is 5% in experienced centres. Death is rarely caused by the metabolic complications of hyperglycaemia or ketoacidosis but rather relates to the underlying illness. The prognosis is substantially worsened at the extremes of age and in the presence of coma and hypotension.

Answer 726

``` Hypoglycaemia Hypokalaemia (cramps, arrythias, tremor, flaccid paralysis etc..) VTE Cerebral oedema/brain injury ARDS ```

Answer 727

Heart failure (HF) results from structural or functional cardiac disorders that impair the ability of the ventricle(s) to fill with and/or eject blood. The presentation of pediatric HF is diverse because of the numerous underlying cardiac etiologies and varying clinical settings.

Answer 728

12-15k in US

Answer 729

Ventricular dysfunction: Cardiomyopathy Myocarditis MI Cardiac ischaemia - Kawasaki, coronary vasculitis Arrhthmogenic - complete heart block with bradycardia, supra ventricular tachycardia, ventricular tachycardia Drug/toxin - anthracycline Non-cardiac: sepsis, RF, OSA, CF, interstitial lung disease, HIV SLE Congenital heart disease ``` Preserved ventricular contractility: VOLUME OVERLOAD: L-R shunting - VSD, PDA, ASD, AVSD Valvular insufficiency - AR, MR, PR Non-cardiac - AV malformation, fluid overload PRESSURE OVERLOAD: LS - AS, Aortic coarc, HTN RS - PS, PHTN ```

Answer 730

Infants – The most common symptoms are tachypnea and diaphoresis during feeds, easy fatigability, irritability, decreased volume of feeds, and poor weight gain. Failure to thrive may result in delayed motor milestones. Young children – In young children, symptoms may include gastrointestinal symptoms (abdominal pain, nausea, vomiting, and poor appetite), failure to thrive, easy fatigability, and recurrent or chronic cough with wheezing. These symptoms be mistaken for common childhood illnesses such as gastroenteritis, reflux, asthma, or even behavioral issues. Older children – Older children may present with exercise intolerance, anorexia, abdominal pain, wheezing, dyspnea, edema, palpitations, chest pain, or syncope Physical examination — Physical findings vary depending on the cardiac output, and degree of volume overload and pulmonary congestion, and/or systemic venous congestion. Tachycardia Poor perfusion -> cool, mottled extremities, dec CAP refill, dec peripheral pulses, dec BP Gallop rhythm (S3) - dec CO/volume overload Pulmonary findings - tachypnoea, nasal flaring, recession, tracheal tug, grunting Wheeze/rales Signs of systemic congestion - hepatosplenomegaly, JVP, peripheral oedema Associated signs: High BP in arms, low in extremities (coarc) Systolic murmur in HOCM, AS, MR, LR shunting Thrill with long-standing cardiomyopathy

Answer 731

CxR ECG Echo BNP + NT-proBNP Troponin FBC ``` Chemistry: Hyponatraemia may be seen RFTs Electrolytes needed before commencing diuretics/ACEi LFTs can be elevated ``` Cardiace catheterisation

Answer 732

Diuretics to reduce congestion Inotropes to increase contractility Vasodilators to reduce after load Furosemide - 1–2 mg/kg Digoxin 8–10 µg/kg/day ACEi - Captopril is preferred in neonates (0.4–1.6 mg/kg/day in 3 divided doses) and infants (0.5–4 mg/kg/day in three divided doses). Enalapril is the first choice for those older than 2 years of age (0.1–0.5 mg/kg/day in two divided doses). Spironolactone 1 mg/kg/day and the target maximum dose is 2 mg/kg/day BBs - Metoprolol (0.1–0.2 mg/kg/dose twice daily and increased to 1 mg/kg/dose twice daily) Inotropes - dopamine 5–20 mcg/kg/min and dobutamine 5–20 mcg/kg/min. Consider ECMO if reversible cardiopulmonary arrest Cardiac transplantation

Answer 733

Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

Answer 734

Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births In England and Wales during 2008–09, there were 172 diagnoses of Patau syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions, 14 stillbirth/miscarriage/fetal deaths, 30 outcomes unknown, and 17 live births.

Answer 735

3 copies of chromosome 13

Answer 736

Increased maternal age at pregnancy | 31yrs average

Answer 737

NB - While many of the physical findings are similar to Edwards syndrome there are a few unique traits, such as polydactyly. . ``` Polydactyly Cyclopia, proboscis Trigegr digits Low set ears Prominent heel ROCKERBOTTOM FEET Omphalocele - abdo contents visible in sack Overlapping of fingers over thumb Cleft palate ``` EYES: cataracts, small eyes, retinal detachment/dysplasia, Nervous system: Intellectual disability, Microcephaly, meningomyelocele Abnormal genitalia, kidney defects, VSD, PDA, dextrocardia, single umbilical artery. The most common characteristics of this syndrome are problems such as late development, mental disability, multiple malformations, cardiomyopathy, and kidney abnormalities. The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers. Physical development for children affected by Patau Syndrome occurs more slowly than children without Patau syndrome. However, children affected by Patau Syndrome should still undergo regular physical activity, even though muscle development may occur more slowly.

Answer 738

Clinical findings Fetal chromosome testing - trisomy 13 While many of the physical findings are similar to Edwards syndrome there are a few unique traits, such as polydactyly.

Answer 739

Medical management of children with Trisomy 13 is planned on a case-by-case basis and depends on the individual circumstances of the patient. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential. Surviving children are described as happy and parents report that they enrich their lives

Answer 740

80% die within first year of life In a retrospective Canadian study of 174 children with trisomy 13, median survival time was 12.5 days. One and ten year survival was 19.8% and 12.9% respectively

Answer 741

Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.

Answer 742

1 in 5k births More females survive Many of those affected die before birth 1 year survival 5-10%

Answer 743

Edwards syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome, either in whole (trisomy 18) or in part (such as due to translocations). The additional chromosome usually occurs before conception.

Answer 744

Increased maternal age

Answer 745

``` Renal malformations Structural heart - VSD, ASD, PDA Omphalocele - intestines protruding outside body Oesophageal atresia Intelectual disabilities Contractures from birth (athrogryposis) ``` Microcephaly, prominent occiput, low set malformed ears, ABNORMALLY SMALL JAW, micrognathia, cleft palate/lip, upturned nose, narrow eye lid. PALPEBRAL fissures, WIDE SPACED EYES, ptosis, clenched hands, underdeveloped thumbs, best radius, webbing of 2nd/3rd toes, rocker bottom/clubfoot, undescended vesicles in males. FREQUENTLY SEE choroid plexus cysts in utero

Answer 746

``` Renal malformations Structural heart - VSD, ASD, PDA Omphalocele - intestines protruding outside body Oesophageal atresia Intelectual disabilities Contractures from birth (athrogryposis) ``` Microcephaly, prominent occiput, low set malformed ears, ABNORMALLY SMALL JAW, micrognathia, cleft palate/lip, upturned nose, narrow eye lid. PALPEBRAL fissures, WIDE SPACED EYES, ptosis, clenched hands, underdeveloped thumbs, best radius, webbing of 2nd/3rd toes, rocker bottom/clubfoot, undescended vesicles in males. FREQUENTLY SEE choroid plexus cysts in utero

Answer 747

Supportive

Answer 748

Number of live birth per year estimated at 37 Major causes of death include apnea and heart abnormalities. It is impossible to predict an exact prognosis during pregnancy or the neonatal period Half do not survive 1st week Median lifespan 15 days 8-12% survive longer than 1 year

Answer 749

Down's syndrome (DS), or trisomy 21, is the most common genetic form of intellectual disability, occurring in 1 in 691 births. In addition to having characteristic physical features, short stature, and hypotonia, individuals with DS have a distinctive cognitive and behavioural profile. They also have a higher frequency of associated medical conditions, including congenital heart defects, and gastrointestinal, thyroid, haematological, audiological, and visual abnormalities. Most common genetic cause of cognitive or intellectual disability, with a prevalence of 1 in 691 births. Characteristic physical features include brachycephaly with a flat occiput; epicanthal folds and upslanting palpebral fissures; Brushfield spots in the iris; low nasal bridge; low-set ears; broad neck; and small hands with transverse crease. Higher frequency of congenital and acquired medical conditions, including congenital heart defects, audiological, vision, GI, haematological, and thyroid issues. Global developmental delay, variable IQ ranging from mild to moderate intellectual disability, and age-related pattern of neurobehavioural phenotype. Early interventional therapies (e.g., speech therapy, physiotherapy, occupational therapy) and individualised educational programmes/resources are essential to maximise the potential of a person with Down's syndrome.

Answer 750

Incidence = 1 in 691 births Standard trisomy 21, the presence of an extra chromosome 21, is caused by chromosome non-disjunction and occurs in 95% of cases. In about 4% to 5% of individuals with DS, the trisomy results from a chromosome translocation, and the remaining 1% of cases of DS are mosaic with a combination of typical and trisomic cells.

Answer 751

Advanced maternal age Previous child with DS - 1% risk Parental Karyotype with a translocation

Answer 752

Standard trisomy 21, the presence of an extra chromosome 21, is caused by chromosome non-disjunction and occurs in 95% of cases. In about 4% to 5% of individuals with DS, the trisomy results from a chromosome translocation, and the remaining 1% of cases of DS are mosaic with a combination of typical and trisomic cells.

Answer 753

``` COMMON RFS Common physical findings - Brachycephaly with flat occiput - Epicanthal folds - Upslanting palpebral fissures - Short nose - Protruding tongue - Small mouth - Extra skin on neck - Single palmar crease - a wide space between first and second toes with vertical plantar creases; and hypoplasia of iliac wings ``` ``` ALSO Hypotonia Congenital HD Gross motor delay Language delay Cognitive disability Hearing loss Autism spectrum disorder ``` Congenital GI: duodenal / anal stenosis/atresia Constipation / hirschprungs Feeding difficulties Behavioural difficulties

Answer 754

Chromosomal karyotyping - trisomy 21, Robertsonian translocation, or mosaicism CHECK Echo, abdo xray, hearing test, TFTs, FBC, visual/dental/developmental, Coeliac ABs Polysomnography

Answer 755

50% have congential HD - evaluation by a paediatric cardiologist, including echocardiogram, is recommended in all newborns with DS Early intervention therapies: Developmental delay Occupational therapy SALT Individualised education plan

Answer 756

Av age 50-60yo ``` Complications: Congenital HD Duodenal atresia Short stature AML ALL Dementia Myeloproliferative disorder Epilepsy Depression Intellectual disability OSA Hearing loss Resp infections Obesity Visual abnormalities/dental Behavioural problems Hirschsprungs, coeliacs Autsism SD Antlantoaxial instability Joint dislocations ```

Answer 757

Downs syndrome

Answer 758

Downs syndrome

Answer 759

Downs syndrome

Answer 760

Noonan syndrome (NS) is a relatively common, autosomal-dominant inherited disorder that is predominantly characterised by short stature, subtle facial dysmorphisms, chest deformity, congenital heart disease, and variable degrees of developmental delay. Coagulation defects, cryptorchidism (undescended testes) in men, and lymphatic dysplasia are not uncommon. Relatively common, autosomal-dominant inherited disorder. Characteristic phenotype includes short stature, chest deformity, congenital heart defects, and unusual facial features. Boys frequently present with cryptorchidism and manifest delayed puberty. Caused by activating mutations in multiple genes in the Ras/mitogen-activated protein kinase (MAPK) signal transduction pathway. The most commonly implicated gene is PTPN11. Treatment focuses on the individual symptom, and may include surgery for undescended testes in boys, optimisation of cardiac function, and growth hormone treatment for short stature. The majority of patients lead normal lives. Prognosis is largely dependent on the type and severity of cardiac disease, which may occur in 50% to 80% of cases. The syndrome is typically caused by gain-of-function (activating) mutations multiple genes in the Ras/mitogen-activated protein kinase (MAPK) signal transduction pathway.

Answer 761

The syndrome is typically caused by gain-of-function (activating) mutations multiple genes in the Ras/mitogen-activated protein kinase (MAPK) signal transduction pathway.

Answer 762

1 in 1000-2500 M=F No ethnic predominance

Answer 763

STRONG FHx - AUTOSOMAL DOMINANCE INHERITANCE WEAK Advanced paternal age

Answer 764

COMMON Short stature Dysmorphic face - wide-spaced and down-slanting eyes with vivid blue or blue-green irides; low-set, posteriorly rotated ears; an inverted triangular-shaped face with small chin; and a broad or webbed neck. Undescended testes are presenting features in most boys (60% to 69%), and may be associated with delayed puberty. Pulmonary valve stenosis and/or dysplasia, septal defects, and other less common structural cardiac defects are cardinal features of NS. Male delayed puberty Easy bruising/bleeding ``` UNCOMMON 20% have lymphatic anomaly Café au lait patches, lentigines, nevi, and keratosis are seen. Sparse/absent eyebrows/lashes Splenomegaly ``` OTHER COMMON During pregnancy, the most common features suggesting a diagnosis of NS are polyhydramnios (excess of amniotic fluid) and cystic hygroma (cystic lymphatic lesion). Other features noted on ultrasound include scalp oedema, increased nuchal translucency, pleural or pericardial effusion, ascites, and/or hydrops (fluid in body cavities). Chest - inferior excavatum and subtle superior carinatum Developmental delay Skeletal anomalies - cubitus valgus (an increased carrying angle of the forearm) is present in 50% of cases, and short fingers with blunt fingertips are seen in up to one third of cases. Joint hyperextensibility occurs in 30% of cases. Less common skeletal anomalies include talipes equinovarus (clubfoot), joint contractures, scoliosis, and radioulnar synostosis (fusion of radius and ulna). Muscle weakness

Answer 765

ECG - wide QRS complexes, with a predominantly negative pattern in the left precordial leads (62%); left axis deviation, and giant Q waves Echocardiogram - congenital HD FBC Coagulation profile (possible prolonged) Molecular gene testing - May be necessary when the diagnosis is equivocal, or for family reasons (e.g., parental diagnosis, determination of the risk for recurrence, or reproductive planning). Renal US - renal malformation is suspected (e.g., malformations such as duplex collecting system, distal ureteric stenosis, renal hypoplasia, unilateral renal agenesis, or unilateral renal ectopia); this may be present in up to 10% of cases Abdo US - may show splenomegaly. (myelodyslasia)

Answer 766

Specialist assessment and consult Cryptorchidism - Urology referral Congenital heart - CV assessment and evaluation for surgery Poor growth - recombinant growth hormone (somatropin) + endocrinology referral

Answer 767

Majority can lead normal lives. Prognosis is largely dependent on the type and severity of cardiac disease. This may occur in up to 75% of cases and is the most common cause of death for people with the syndrome. ``` Complications: Failure to thrive Hearing loss Leukaemia Solid tumours Opthalmic abnormalities Learning difficulties Seizures Musculoskeletal problems AI disease (systemic lupus erythematosus, autoimmune thyroiditis, coeliac disease, primary antiphospholipid syndrome, autoimmune hepatitis, vitiligo, and autoimmune thyroiditis._ ```

Answer 768

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, the person becomes constantly hungry, which often leads to obesity and type 2 diabetes. Also, mild to moderate intellectual impairment and behavioral problems are typical. Often, the forehead is narrow, hands and feet are small, height is short, skin is light in color, and most of the affected are unable to have children.

Answer 769

1 in 10-30k

Answer 770

About 74% of cases occur when part of the father's chromosome 15 is deleted. In another 25% of cases, the person has two copies of chromosome 15 from their mother and none from their father. As parts of the chromosome from the mother are turned off, they end up with no working copies of certain genes. PWS is not generally inherited, but instead the genetic changes happen during the formation of the egg, sperm, or in early development

Answer 771

APPEARANCE: ``` Prominent nasal bridge Small hands and feet with tapering of fingers Soft skin, which is easily bruised Excess fat, especially in the central portion of the body High, narrow forehead Thin upper lip Downturned mouth Almond-shaped eyes Light skin and hair relative to other family members Lack of complete sexual development Frequent skin picking Stretch marks Delayed motor development ``` Uterus and birth: ``` Reduced fetal movement Frequent abnormal fetal position Occasional polyhydramnios (excessive amniotic fluid) Often breech or caesarean births Lethargy Hypotonia Feeding difficulties (due to poor muscle tone affecting sucking reflex) Difficulties establishing respiration Hypogonadism Thin upper lip ``` Childhood: ``` Delayed milestones/intellectual delay Excessive sleeping Strabismus (crossed eyes) Scoliosis (often not detected at birth) Cryptorchidism Speech delay Poor physical coordination Hyperphagia (overeating) begins between the ages of 2 and 8, and continues on throughout adulthood. Excessive weight gain Sleep disorders Delayed puberty Short stature Obesity Extreme flexibility ``` Adulthood: ``` Infertility (males and females) Hypogonadism Sparse pubic hair Obesity Hypotonia (low muscle tone) Learning disabilities/borderline intellectual functioning (but some cases of average intelligence) Prone to diabetes mellitus Extreme flexibility ``` 5%: IQ above 85 (high to low average intelligence) 27%: IQ 70–85 (borderline intellectual functioning) 39%: IQ 50–70 (mild intellectual disability) 27%: IQ 35–50 (moderate intellectual disability) 1%: IQ 20–35 (severe intellectual disability) <1%: IQ <20 (profound intellectual disability) PWS is frequently associated with a constant, extreme, ravenous, insatiable appetite, which persists no matter how much the patient eats, often resulting in morbid obesity.

Answer 772

It is traditionally characterized by hypotonia, short stature, hyperphagia, obesity, behavioral issues (specifically obsessive–compulsive disorder-like behaviors), small hands and feet, hypogonadism, and mild intellectual disability Genetic testing - DNA-based methylation testing to detect the absence of the paternally contributed PWS/AS region on chromosome 15q11-q13.

Answer 773

No cure Physio - to improve muscle strength SALT Physical activity May need psych input for behavioural problems. Prescription of daily recombinant GH injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain. NB beware of OSA

Answer 774

People with PWS usually reach adulthood and are able to function in a group home setting, performing vocational work, or attending community college classes. However, they do need a significant amount of support from their families and from school, work, and residential service providers. Even those with IQs in the normal range need lifelong diet supervision and protection from food availability.

Answer 775

Complications that could affect the quality of life and potentially shorten life expectancy include those relating to hypogonadism, behavioral or psychological issues, and morbid obesity.

Answer 776

A chromosomal disorder involving a complete or partial absence of the second sex chromosome in phenotypic females, with characteristic features such as short stature and premature ovarian failure. Chromosomal abnormality involving a complete or partial absence of the second sex chromosome, occurring in approximately 1 in 2500 live female births. Characteristic clinical features include short stature and premature ovarian failure in a phenotypic female. Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients. Haplo-insufficiency for X- or Y-encoded pseudo-autosomal genes largely responsible for the phenotype. Intelligence is normal, with verbal skills generally greater than performance or visual-spatial skills.

Answer 777

1 in 2500 All races <10% diagnosed antenatally 20% are detected in infancy owing to the presence of lymphoedema, neck webbing, or congenital heart defects. The largest proportion of detection is at 10 to 16 years of age, owing to a combination of marked short stature and delayed puberty. Another 10% are diagnosed in adulthood, owing to secondary amenorrhoea.

Answer 778

Sporadic Loss of all or a part of a sex chromosome during early embryogenesis usually results in the development of a female fetus with developmental anomalies. Monosomy for the Y-chromosome is non-viable. Those 46,XY fetuses that lose a Y chromosome relatively late in development may have enough Y chromosome input to drive partial or complete male development. However, these patients are identified as males, and are considered under the diagnosis of Disorders of Sexual Differentiation rather than Turner's syndrome. Males with 45,X cell lines have variable degrees of short stature, delayed puberty or infertility, and risk for cardiovascular disorder.

Answer 779

COMMON Poor growth Short stature Delayed/absent puberty Primary amenorrhoea Congenital HDs: Aortic coarctation and bicuspid aortic valves are the most common abnormalities. Skeletal: wide carrying angle, scoliosis, short fourth metacarpals or metatarsals, and, rarely, a Madelung deformity (prominent distal ulna) UNCOMMON Webbed neck Peripheral lymphoedema OTHER COMMON Low-set or malrotated ears, down-sloping eyes, ptosis or hooded eyes, and low posterior hairline are pathognomonic. A high-arched palate, although common, is not specific for Turner's syndrome. ``` Secondary amenorrhoea Multiple melanocytic naevi Recurrent otitis media Systolic ejection murmur/click Poor social skills ``` UNCOMMON Upper extremity HTN (coarc) Dystrophic/hyperconvex nails

Answer 780

Karyotyping - at least 10% of the cells with a complete or partial loss of a sex chromosome. Abnormalities include non-mosaic 45,X; mosaic 45,X (proportion of cells with a normal chromosome constitution); and fragmented X or Y (Xp deletions, isoXq chromosomes, Xq deletions, and ring X or Y chromosomes with substantial interstitial deletions). CONSIDER Echo/MRI- bicuspid aortic valve; coarctation of the aorta; dilated aorta; partial anomalous pulmonary veins; left heart hypoplasia FSH - high Renal US - horseshoe or single kidney, or duplicated collecting system TFTs - Autoimmune thyroid disease (Hashimoto's thyroiditis and, less commonly, Graves' disease) is a common complication in Turner's syndrome. LFTs - About 30% to 40% of patients develop a complication of 'Turner's hepatitis'. Fasting glucose + HBA1c Serum lipids - elevated (common in turners) IgA + IgA TTG - coeliac common

Answer 781

Supportive - healthy diet, oestrogen therapy, statin Rx fo high risk CVD, surveillance of congenital HDs Annual screening should be carried out, including TFTs for autoimmune hypothyroidism, LFTs to screen for 'Turner's hepatitis', BP measurements for HTN, fasting glucose to identify patients with diabetes mellitus (fasting glucose and HbA1c to identify patients likely to develop diabetes), lipids to monitor dyslipidaemia, and hearing screen to identify those with sensorineural or other types of deafness. Tissue transglutaminase IgA (if normal IgA levels) should be measured every 3 to 5 years to screen for coeliac disease. Baseline bone mineral density should be assessed at the transition to adult care and re-evaluated at menopause or sooner if indicated. Poor growth - somatropin recombinant / oxandrolone Low dose oestrogen to induce pubertal development. - estradiol transdermal / estradiol ADD cyclic progesterone once there is breakthrough bleeding CV specialist assessment Women with Turner's syndrome should normally continue on HRT after induction and development of puberty. HRT should continue until about 50 years of age, after which further oestrogen therapy may be given depending on individuals' risk/benefit considerations. Low bone mass should be managed with oestrogen replacement hormone therapy, adequate calcium in diet, normal vitamin D levels, and weight-bearing activities, not bisphosphonates. Most women with Turner's syndrome are infertile, but spontaneous menses and pregnancies may occur in 2% to 3%. PREGNANCY COUNSELLING There is increased incidence of a fetus with aneuploidy when using their own oocytes. Pregnancy exacerbates underlying metabolic, hypertensive, and cardiovascular problems and may be catastrophic for women with Turner's syndrome; therefore, girls over the age of 10 years need close monitoring with regard to potential fertility and education on reproductive issues and sexual behaviours. Moreover, infertile adults with Turner's syndrome may be interested in pregnancy via assisted reproduction using donor oocytes. Such pregnancies may have an unusually high risk for maternal death from aortic dissection or rupture, and from pre-eclampsia and its complications.

Answer 782

Epidemiological studies based on European registry data collected mainly in the late 20th century consistently report increased morbidity and mortality in adults with Turner's syndrome, owing to complications of congenital heart disease, ischaemic heart disease, diabetes mellitus, and osteoporosis.

Answer 783

``` T2DM Dyslipidaemia Hearing loss Osteoporosis AD HTN Neurocognitive defects Hashimotos Graves Hepatitis Gonadoblastoma ```

Answer 784

Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. The primary features are infertility and small testicles. Often, symptoms may be subtle and many people do not realize they are affected. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Often it is only at puberty that these symptoms are noticed. Intelligence is usually normal; however, reading difficulties and problems with speech are more common. Symptoms are typically more severe if three or more X chromosomes are present (XXXY syndrome or 49,XXXXY).

Answer 785

Random 1-2 per 1000

Answer 786

Older mother

Answer 787

The extra chromosome is retained because of a nondisjunction event during paternal or maternal meiosis I (gametogenesis). Nondisjunction occurs when homologous chromosomes, in this case the X and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Fertilizing a normal (X) egg with this sperm produces an XXY offspring (Klinefelter). Fertilizing a double X egg with a normal sperm also produces an XXY offspring (Klinefelter).

Answer 788

``` Weak muscles Reduced strength Tall height Reduced muscle control Less facial / pubertal hair Wider hips May develop gynaecomastia ``` Infertility (hypogonadism) XXY males are also more likely than other men to have certain health problems that typically affect females, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis XXY males may sit up, crawl, and walk later than other infants; they may also struggle in school, both academically and with sports

Answer 789

The standard diagnostic method is the analysis of the chromosomes' karyotype on lymphocytes In the past, the observation of the Barr body was common practice, as well. Other methods may include research of high serum levels of gonadotropins (follicle-stimulating hormone and luteinizing hormone), presence of azoospermia, determination of the sex chromatin 10% detected prenatally via chorionic villus sampling or amniocentesis.

Answer 790

Testosterone replacement - implants possible Surgical breast removal The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. An approach by occupational therapy is useful in children, especially those who have dyspraxia. By 2010, over 100 successful pregnancies have been reported using IVF technology with surgically removed sperm material from males with KS. Microdissection testicular sperm extraction in adult men with Klinefelter syndrome reported success rates up to 45%

Answer 791

A 1985 publication identified a greater mortality mainly due to diseases of the aortic valve, development of tumors, and possible subarachnoid hemorrhages, reducing life expectancy by about 5 years. Later studies have reduced this estimated reduction to an average of 2.1 years

Answer 792

Toddler's diarrhoea is a common cause of persistent (chronic) diarrhoea in young children. It mainly affects children between the ages of 1 and 5 years and is more common in boys. Toddler's diarrhoea is not serious and the child is well. The diarrhoea will go as the child becomes older. The diet of young children is often not ideal and is thought to contribute to the cause. The diarrhoea will often stop if the child: has a good amount of fat in the diet (whole milk, etc); does not drink too much fruit juice or squash; has meals that include a normal amount of fibre (but not a high-fibre diet).

Answer 793

1-5yos | M>F

Answer 794

Poor diet Low fruit and veg Low fat Low fibre

Answer 795

It is thought that the balance of fluid, fibre, undigested sugars and other undigested foods that reach the colon may be upset in affected children. This can increase the amount of fluid (water) that is kept in the colon rather than being absorbed into the body. In young children, even a slight increase in fluid left in the colon can cause stools to become more frequent and runny than normal. As the child grows, the colon becomes more efficient and the condition goes. Toddler's diarrhoea is not due to poor absorption (malabsorption) of food or to a serious bowel problem. It is also not due to an intolerance of a type of food.

Answer 796

``` 3-10 loose stools per day Visualisation of vegetable in food Smelly + pale Soon after eating Mild tummy pain (unusual) NORMAL GROWTH NORMAL PLAY/UNBOTHERED NORMAL EXAM ```

Answer 797

Clinical | Stool sampling possible

Answer 798

Usually dissipates by age 5 4 Fs diet FAT More common in children eating a low fat diet. The diet of preschool children should have about 35-40% fat FLUID + FRUIT JUICE Do not give children too much fruit juice or squash. Fruit juices contain various sugars (carbohydrates). Some types of sugar are not digested or absorbed and so get to the large bowel (colon). Here they may act to keep water in the bowel and cause watery stools. Clear apple juice seems to be the worst, as it contains a lot of certain sugars. Cloudy juices that contain some fibre are not as bad. The sugar in juice and squash contains a lot of calories. This can reduce the appetite for normal meals. Therefore, the child tends to eat less fat and fibre at normal mealtimes. Some children seem to obtain most of their daily calories from juice and don't eat very much solid food. FIBRE - very low- or high-fibre intakes may make symptoms worse in some children

Answer 799

Paediatric urinary tract infection (UTI) is defined as a common bacterial infection involving the lower urinary tract (cystitis), the upper urinary tract (pyelonephritis), or both, causing illness in children. Recognising and treating these infections promptly and accurately is important. UTI is associated with pyelonephritis, which has potential sequelae, including renal scarring. Untreated UTI can also lead to hypertension and end-stage renal disease. Asymptomatic bacteriuria is the presence of bacteria in urine obtained in asymptomatic children (usually girls) on routine screening or incidentally during other investigations. Antibiotic treatment does not seem to help eliminate the bacteria, reduce recurrence, or prevent kidney damage. A common diagnosis among infants and children; if missed, can lead to renal scarring, hypertension, and end-stage renal disease. Non-specific signs and symptoms may herald UTI, and practitioners should have a high index of suspicion in a febrile infant. An appropriately obtained urine specimen can confirm the diagnosis and pathogen; urine culture and antimicrobial susceptibility testing will define the appropriate antibiotic for treatment. Of children <6 years of age with first-time UTI, 25% have vesicoureteral reflux (VUR) and, of those, 25% have significant VUR (grade IV or V), placing them at risk for renal scarring. Infection can recur in young infants and those with voiding dysfunction in the absence of urinary reflux.

Answer 800

8% girls, 2% of boys have had a UTI by age 7 8% of children can verbalise Sx Prevalence in children with undifferentiated fever = 5% W>B White girls with fever >39 w/o potential source - 30% will have UTI

Answer 801

Bacterial infections are the most common cause. Escherichia coli is the cause of 85% to 90% of paediatric UTIs. Proteus mirabilis may be found in 30% of boys with uncomplicated cystitis. Staphylococcus saprophyticus is found in adolescents of both sexes with acute UTI. Staphylococcus aureus is the most common cause of renal abscess. Pseudomonas species, Serratia marcescens , Citrobacter species, and Staphylococcus epidermidis may cause low-virulence infections in patients with malformation or dysfunction of the urinary tract. Other organisms causing UTI in children include Klebsiella aerogenes and Enterococcus species. Adenovirus infections are a rare cause of UTI. While bacteria are the most common infectious agents causing UTIs worldwide, co-infection with parasites, such as Schistosoma species, may significantly contribute to morbidity of the genitourinary tract.

Answer 802

``` STRONG Age <1 Female White Uncircumcised Previous UTI Voiding dysfunction - frequency/urgency/withholding manoeuvres Vesicoureteral reflux Sexual activity No Hx Breast feeing Obstructive anomalies / Hx surgery ``` WEAK Constipation Immunosuppression

Answer 803

``` COMMON RFs Fever >39 Irritability Poor feeding Suprapubic tenderness ``` UNCOMMON Costovertebral angle tenderness ``` OTHER COMMON Foul smelling urine Dysuria Increased frequency Abdominal/flank pain ``` ``` UNCOMMON Vomiting Ill appearance Gross haematuria New-onset urinary incontinence ```

Answer 804

Urine Dip - positive leukocyte esterase and/or positive nitrite Urine MC+S Blood culture - positive for infecting organism CONSIDER Fungal urine culture if immunosuppressed Renal US to look for any anatomical abnormalities of the urinary tract DMSA scan - pyelonephritis or renal scarring: focal or diffuse areas of decreased uptake Voiding cystourethrogram - if vesicoureteral reflux is present: contrast seen ascending out of the bladder into the upper urinary tract CT/MRI possible in extreme situations, ie pyrexia of unknown origin to search for a renal abscess and phlegm

Answer 805

Neonates/infants <6w IV ampicillin + gent / ampicillin + cefotaxime Others: STABLE Oral ABX: Cefixime 16 mg/kg/day orally given in divided doses every 12 hours on day one, followed by 8 mg/kg/day OR amoxicillin/clavulanate Or trimethoprim/sulfamethoxazole IF UNSTABLE Ampicillin + Gentamicin IV Ciprofloxacin

Answer 806

``` ABx rash - STOP Renal abscess Phlegmon (lobar nephronia) Sepsis in adult ABx related colitis Renal scarring HTN CKD ```

Answer 807

The prognosis is good overall, although there is a risk of recurrent infection after a first UTI. In patients with urinary tract comorbidity, progression of renal dysfunction is likely.

Answer 808

Biliary atresia is a progressive idiopathic, necroinflammatory process that may involve a segment or the entire extrahepatic biliary tree. Even with appropriate, timely surgical intervention, it is often an unrelenting inflammatory process. A serious disease requiring prompt early diagnosis preferably before 6 to 8 weeks of age. A fibro-obliterative obstruction of the extrahepatic biliary tree progressing to intrahepatic ducts, which can develop in utero or during the neonatal period. Presentation may include jaundice, pale stools, or hepatomegaly. Biliary atresia should be excluded in any baby with jaundice associated with pale stools, with jaundice persisting beyond 14 days of age, or if the conjugated bilirubin is higher than 34.2 micromol/L (>2 mg/dL) or 20% of the total. Hepatoportoenterostomy is warranted in infants less than 100 days of age and without evidence of end-stage liver disease, but many go on to require liver transplantation within a few years. Most common complications or sequelae are growth failure, portal hypertension, cholangitis, and ascites. Long-term management focuses on optimisation of growth and nutrition. This condition is fatal without surgery and is the leading indication for paediatric liver transplantation. At least 70% of children with biliary atresia will undergo liver transplantation, 50% of them by 2 years of age.

Answer 809

1 in 18k births in europe F>M Highest prevalence in asia It is the most common cause of neonatal jaundice requiring surgical intervention and the most common indication for liver transplantation in children.

Answer 810

Unknown. Several theories: Viral infection/toxin exposure: numerous studies exploring a viral aetiology have focused on reovirus, rotavirus, and other hepatotropic viruses. Defects in morphogenesis: potentially caused by a toxin at a critical time in embryological development. Genetic predisposition: the condition is unlikely to be inherited by Mendelian genetics, but genetic factors likely contribute. The increased association with histocompatibility antigen HLA-B12 (haplotypes A9-B5 and A28-B35) and its early onset suggest a genetic susceptibility to an acquired insult. Defects in antenatal circulation: bile ducts receive their blood supply exclusively from the hepatic arterial circulation. Immune or autoimmune dysregulation: animal models of the condition support the role of autoimmunity. Autoreactive T cells specific to bile duct epithelia are sufficient to produce bile duct inflammation in mice, causing a similar phenotype.

Answer 811

``` WEAK Genetic predispostion Viral infection Environmental / behavioural exposures Maternal DM ```

Answer 812

``` COMMON Neonatal jaundice Acholic stool (white->tan->yellow) Dark urine Bruising ``` UNCOMMON Hepatomegaly Ascites

Answer 813

1st: Serum total + conj bilirubin - conjugated bilirubin >34.2 micromol/L (>2.0 mg/dL) or >20% of total bilirubin Newborn Guthrie/screen - usually normal (but CF may coexist) PT time / INR - N FBC - in advanced disease; low platelets, low WBC LFTs - elevated GGT supports biliary disease Abdo US - liver usually normal texture, possibly enlarged, unlikely ductal dilation; absent or multiple spleen; ascites, triangular cord sign possible ``` CONSIDER Hepatobiliary scintigraphy Liver biopsy Cholangiogram ERCP ```

Answer 814

Without End-stage liver disease: Hepatoportoenterostomy Ursodeoxycholic acid: 20-30 mg/kg/day orally given in 2 divided doses. Thought to be hepatoprotective and facilitates bile flow. Liver transplantation End stage liver disease: Liver transplantation ONGOING ABx prophylaxis for first year of life Vitamin supplementation - ADEK

Answer 815

``` Growth failure Cholangitis Portal HTN GI bleed Vitamin deficiency Bone fractures Osteomalacia Osteopenia Ascites Bile lakes/bilomas Spontaneous bacterial peritonitis Xanthoma Hepatopulmonary HTN ```

Answer 816

First-line treatment is hepatoportoenterostomy (HPE), which provides transplant-free survival for at least 2 years in about half of children. The focus of care following HPE is fat-soluble vitamin replacement, nutrition rehabilitation, prevention of cholangitis, and minimisation of the sequelae of portal hypertension. Overall, it is thought that 70% or more of affected children will ultimately require liver transplantation.

Answer 817

Biliary atresia

Answer 818

Biliary atresia

Answer 819

Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are congenital malformations that result from defective separation of the oesophagus and trachea. A blind-ending upper oesophageal pouch with a fistulous connection between the distal oesophageal segment and the trachea is the most common type. Occurs in 1 of every 2500 to 4500 live births. There are no known predisposing factors; however, the condition often presents with other congenital anomalies, including VACTERL complex (vertebral defects, anorectal anomalies, cardiac defects, tracheo-oesophageal abnormalities, radial and renal abnormalities, and limb anomalies). Surgical intervention is required as a newborn. Patients may have long-term complications, such as GORD, tracheomalacia, and chronic respiratory infections.

Answer 820

1 in 2500-4500 births The majority of infants have Gross type C, comprising 85% to 90% of all cases. The second most common type is a pure atresia (Gross A), which comprises 4% to 7% of all cases. Gross type D occurs 3% of the time. A much rarer form, the H-type fistula (Gross E), occurs in approximately 2% to 3% of cases. This type of fistula may be undiagnosed until later in life. Type B occurs only 1% of the time.

Answer 821

Abnormal separation during 4th week in utero. Type A Pure atresia (4% to 7%) Type B Proximal fistula with distal atresia (1%) Type C Proximal atresia with distal fistula (85% to 90%) Type D Proximal and distal fistula (3%) Type E H-type fistula (2% to 3%) Tracheo-oesophageal fistula without oesophageal atresia

Answer 822

WEAK Trisomy 18 (ed) or 21 FHx

Answer 823

COMMON Maternal Hx of polyhydramnios Inability to swallow secretions Inability to pass NG tube ``` OTHER COMMON Laboured respiratory Coughing Choking VACTERL association ``` UNCOMMON Cyanosis

Answer 824

Antenatal US / MRI diagnoses 37% Xray chest/abdo - nasogastric tube coiled in upper pouch If suspect H type fistula patients present with evidence of recurrent aspiration. Perform barium swallow / oesophagoscopy - contrast in trachea / fistula visualised

Answer 825

TYPE A 1 - Stabilisation and gastrostomy (enteral feeds, allows oesophagus to grow, repaired at 3months) 2 - Oesophageal replacement TYPE B+D Suction catheter and surgery (performed in 24-48hrs life) TYPE C Stabilisation and surgical correction TYPE E NBM + surgical division of fistula

Answer 826

``` Failure to thrive GORD, dysphagia, dysmotility Chest wall malformation/scoliosis Oesophageal stricture Tracheomalacia ```

Answer 827

Patients with isolated OA/TOF without commonly associated congenital abnormalities (i.e., cardiac and chromosomal) have a good prognosis and survive to live healthy lives. Motility disorders and respiratory complications may occur.

Answer 828

Oesophageal atresia and tracheo-oesophageal fistula

Answer 829

Oesophageal atresia and tracheo-oesophageal fistula

Answer 830

An oro-facial cleft is an abnormal opening secondary to developmental failure in utero. Cleft lip with or without cleft palate can be unilateral or bilateral, and occurs in a variety of combinations with variable expression in the nose, lip, alveolus, and primary and secondary palates. Diminutive expressions of cleft lip and/or palate are known as microform, occult, minor, or forme fruste (aborted form). Oro-facial clefts are among the most common birth defects. Cleft lip with or without cleft palate is approximately twice as common as isolated cleft palate. The majority of cleft lip deformities are associated with a varying degree of nasal deformity. Oro-facial clefts can occur in isolation or as a component of an identifiable syndrome. The aetiology of cleft lip and palate involves a variety of genetic and environmental factors that result in variable expressions of oro-facial clefting. Comprehensive care involves a multi-disciplinary cleft team with specialists from fields such as facial plastic surgery, genetics, nursing, speech-language pathology, orthodontics, dentistry, oral surgery, audiology, and paediatrics.

Answer 831

1 in 600-750 births Two-thirds of oro-facial clefting involve the lip and/or palate, and nearly one third involve the palate alone. The majority of cleft lip and/or palate cases are unilateral (80%), and are more common on the left side. Midline clefts of the nose and/or lip are rare deformities. Isolated cleft palate occurs twice as often in females, while cleft lip and/or palate occurs more frequently in males.

Answer 832

``` Genetic factors More than 300 associated syndromes, EG Pierre robins Environmental factors: Teratogens (eg phenytoin) Nutritional deficiencies Perinatal multivitamin non-adherence Maternal tobacco / alcohol ```

Answer 833

``` STRONG Genetic predisposition Dysmorphic syndrome Anticonvulsant drugs Maternal tobacco use ``` WEAK Maternal alcohol consumption Folic acid deficiency

Answer 834

``` Visualisation of: Bilateral cleft lip/palate Unilateral cleft ip/palate Isolated cleft palate Microform cleft lip Isolated sub-mucous cleft palate - Identified by a diastasis of the midline palatal musculature (zona pellucida), a notched hard palate on palpation, and a bifid uvula +ve AN US ```

Answer 835

Audiogram - hearing loss

Answer 836

``` Specialised feeding until 3 months age Pre-surgical lip taping from 3-7 months Corrective surgery 10-14 months SALT Skeletal maturity: Orthodontics and orthognathic surgery for dentofacial malocclusion ```

Answer 837

``` Failure to thrive Oro-nasal fistula Wound infection Speech impairment Tympanic membrane perforation Palatal fistula ``` A child born with a cleft lip with or without cleft palate will require a multi-disciplinary approach to management throughout his or her development. In the absence of an associated syndromic condition; however, children with cleft lip and/or palate can have excellent aesthetic and functional outcomes. One study found that boys with right-sided cleft lips had more brain structure abnormalities seen on MRI than did those with left cleft lips or healthy controls, suggesting that both gender and the side of the cleft lip may provide insights into the co-existing neurodevelopmental differences of children with unilateral cleft lip.

Answer 838

Cleft lip and palate

Answer 839

Cleft lip and palate

Answer 840

Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation. The Bochdalek hernia, also known as a postero-lateral diaphragmatic hernia, is the most common manifestation of CDH, accounting for more than 95% of cases. It involves three major defects: A failure of the diaphragm to completely close during development Herniation of the abdominal contents into the chest Pulmonary hypoplasia

Answer 841

Mortality of 40-62% | 1-5/10k

Answer 842

It involves three major defects: A failure of the diaphragm to completely close during development Herniation of the abdominal contents into the chest Pulmonary hypoplasia

Answer 843

Often diagnosed before birth Respiratory failure due to pulmonary HTN + Hypoplasia Dec lung volume Presence of abdominal contents in chest

Answer 844

US in utero usually

Answer 845

Orogastric tube Intubation ECMO can be used (reduces PHTN) Hernia stitched closed / patch used Organs restated Diaphragm eventration is typically repaired thoracoscopically, by a technique called plication of the diaphragm.

Answer 846

CDH is a life-threatening pathology in infants and a major cause of death due to two complications: pulmonary hypoplasia and pulmonary hypertension Congenital diaphragmatic hernia has a mortality rate of 40–62%, with outcomes being more favourable in the absence of other congenital abnormalities. Individual rates vary greatly dependent upon multiple factors: size of hernia, organs involved, additional birth defects, and/or genetic problems, amount of lung growth, age and size at birth, type of treatments, timing of treatments, complications (such as infections) and lack of lung function.

Answer 847

Cryptorchidism, or undescended testis, is when one or both testes are not present within the dependent portion of the scrotal sac. Diagnosis is made on physical examination when one or both testes are not present within the dependent portion of the scrotal sac. Approximately 70% of cryptorchid testes are palpable within the upper portion of the scrotum or inguinal canal, whereas the other 30% are not palpable, suggesting either an intra-abdominal location, testicular nubbin, or anorchia. Referral to a specialist should be made by 6 months corrected gestational age and surgical correction should be performed within the next year. Testes that remain undescended by 6 months are unlikely to descend spontaneously. Boys with newly acquired (ascended) testicles should be referred to a surgical specialist. Delayed or lack of treatment has been associated with a higher incidence of testicular cancer and reduced fertility from the affected testis. Immediate specialist consultation should be obtained in any patient with bilateral non-palpable testicles. Patients affected with both cryptorchidism and hypospadias should be screened with karyotype for a disorder of sex development (DSD).

Answer 848

2-8% WW Decreases to 1-2% (may spontaneously resolve with the neonatal peak of testosterone by 3 months) Two-thirds of cases are unilateral, while the remainder are bilateral.

Answer 849

Unknown Hormonal: patients may have abnormalities in the pathways/signalling of testosterone, mullerian inhibiting substance, insulin-like 3 hormone or its receptor LGR8, epidermal growth factor, and/or oestrogens. Environmental or maternal toxins: organochlorines, environmental oestrogens, phthalate esters, and pesticides have all been linked to increased risk of cryptorchidism, though current literature is inconclusive. Maternal alcohol consumption, analgesic consumption, and smoking have also been associated with an increased risk, though these data are conflicting. Gestational diabetes and/or obesity may be related to the development of cryptorchidism. Genetic: up to 23% of cases have been associated with familial clustering, suggesting an underlying genetic mutation as the aetiology in these patients. Mechanical: problems with development of the gubernaculum or cremasteric muscle fibres, a patent processus vaginalis, or impaired intra-abdominal pressure have also been hypothesised to contribute to cryptorchidism. Neuromuscular: abnormalities of the calcitonin gene-related peptide of the genitofemoral nerve or the cremasteric nucleus have been postulated to cause cryptorchidism.

Answer 850

STRONG FHx [23% of cases] Prematurity LBW/SGA ``` WEAK Environmental exposures Maternal alcholo use GDM Hx inguinal surgery ```

Answer 851

COMMON Malpositioned / absent testes Palpable cryptorchid testes Non-palpable testes OTHER COMMON Testicular asymmetry Scrotal hypoplasia Retracile testis ``` UNCOMMON Ascending cryptorchidism Hypospadias Micropenis Surgical scar (can be iatrogenic) ```

Answer 852

Clinical If testis is non-palpable the current recommendation is examination under anaesthesia, followed by diagnostic laparoscopy (or open surgery) if still non-palpable.

Answer 853

Retractile testes: Annual followup Undescended, prepubertal, no hypospadias: Orchiopexy is the treatment of choice for a palpable testicle(s) that has not descended into the dependent portion of the scrotum by 6 months of age. Surgical therapy should ideally occur prior to 12-18 months of age. Bilateral non-palpable Surgical exploration + endocrine referral

Answer 854

92-95% surgical success rate The chance of later neoplasia in a boy born with unilateral undescended testicle is approximately 1 in 120, and with bilateral undescended testicles the chance is approximately 1 in 44. The higher the testis is in the abdomen, the higher the risk appears to be.

Answer 855

Infertility | Malignancy

Answer 856

cryptorchidism

Answer 857

cryptorchidism

Answer 858

Mesenteric lymphadenitis refers to inflammation of the mesenteric lymph nodes and is considered present if a cluster of three or more lymph nodes, each measuring 5 mm or greater, is detected in the right lower quadrant mesentery. This process may be acute or chronic, depending on the causative agent, and it causes a clinical presentation that is often difficult to differentiate from acute appendicitis in children.

Answer 859

Numerous organisms have been cultured from mesenteric lymph nodes and blood, such as beta-hemolytic streptococcus, Staphylococcus species, Escherichia coli, Streptococcus viridans, Yersinia species (responsible for most cases currently), Mycobacterium tuberculosis, Giardia lamblia, and non– Salmonella typhoid. Viruses, such as coxsackieviruses (A and B), rubeola virus, and adenovirus serotypes 1, 2, 3, 5, and 7, have also been implicated. Mesenteric node involvement can also be part of infectious Epstein-Barr virus (EBV), acute human immunodeficiency virus (HIV) infection, and catscratch disease (CSD). The frequent association of this condition, especially in children with upper respiratory tract infection, has popularized a theory that swallowed pathogen-laden sputum may be the primary source of infection. Fecal-oral transmission occurs in Y enterocolitica infection and may present as a common source outbreak. This infection has also been associated with meat, milk, and water contamination. Rarely, person-to-person or zoonotic contacts with fecal carriers can lead to infection.

Answer 860

Up to 20% of patients undergoing appendectomy have been found to have non-specific mesenteric adenitis M=F

Answer 861

``` Onset = insideous or sudden Abdo pain Fever Diarrhoea Anorexia Concomitant/antecedent URTI N+V (generally precedes pain) Hx of ingestion of raw pork (endemic Yersinia eg Belgium) ``` ``` Fever 38-38.5 Flushed RLQ tenderness W/WO rebound Voluntary guaring Rhinorrhoea Hyperaemic pharynx Toxic appearance Cervical/peripheral lymphadenopathy ```

Answer 862

FBC - leucocytosis Chemisty - consisted with N+V IE metabolic alkalosis and uraemia/creatinine. Stool culture if diarrhoea Blood culture Urinalysis to exclude UTI US performed to detect appendicitis CT possible but not usually worth performing MRI may be warranted

Answer 863

Empiric, broad-spectrum antibiotics may be used in moderately to severely ill patients and should cover Yersinia strains, commonly causative in mesenteric adenitis. Patients with volume depletion, significant electrolyte imbalance, and/or sepsis require hospital admission. Surgery is usually indicated in suppuration and/or abscess, with signs of peritonitis, or if acute appendicitis cannot be excluded with certainty. At laparotomy, the diagnosis is generally clear. An appendectomy should be performed in view of the tendency for recurrence of lymphadenitis and the difficulty in differentiating adenitis from appendicitis. Metronidazole usually given

Answer 864

The prognosis is good. Typically, complete recovery can be expected without specific treatment. Death is rare. Mesenteric lymphadenitis generally is a benign disease, but patients with sepsis may have a fatal outcome. Complications of mesenteric lymphadenitis include the following: Volume depletion and electrolyte imbalance in patients with severe diarrhea, nausea, and vomiting Abscess formation Peritonitis (rare) Sepsis In cases where the underlying pathogen is Y enterocolitica, some patients may develop arthralgias. These symptoms typically develop 1 month after the initial episode of diarrhea and usually resolve after 1-6 months. A rash on the legs and/or trunk, erythema nodosum, may also appear and is also self-limited.

Answer 865

The prognosis is good. Typically, complete recovery can be expected without specific treatment. Death is rare. Mesenteric lymphadenitis generally is a benign disease, but patients with sepsis may have a fatal outcome. Complications of mesenteric lymphadenitis include the following: Volume depletion and electrolyte imbalance in patients with severe diarrhea, nausea, and vomiting Abscess formation Peritonitis (rare) Sepsis In cases where the underlying pathogen is Y enterocolitica, some patients may develop arthralgias. These symptoms typically develop 1 month after the initial episode of diarrhea and usually resolve after 1-6 months. A rash on the legs and/or trunk, erythema nodosum, may also appear and is also self-limited.

Answer 866

A collection of chronic paediatric arthropathies characterised by onset before 16 years of age and the presence of objective arthritis (in one or more joints) for at least 6 weeks. Arthritis of joints is defined by swelling or effusion, increased warmth, and/or painful limited movement with or without tenderness. Juvenile idiopathic arthritis (JIA) is the most common chronic arthropathy of children and includes several subtypes (including oligoarticular, polyarticular, and systemic onset). Affects 1 in 1000 children and can present at any age. Diagnosis is made clinically. Laboratory and radiographic testing provide classification and prognostic information but are not diagnostic. Intra-articular corticosteroids offer good control if only a few joints are affected. Methotrexate is the most commonly used disease-modifying agent. Agents that block inflammatory cytokines (e.g., tumour necrosis factor alpha inhibitors, interleukin-1, and interleukin-6) are used in more resistant cases. Physiotherapy, occupational therapy, and psychologyp form an important aspect of management. Around 10% to 20% of children with JIA are at risk of developing anterior uveitis. All children with a diagnosis of JIA must undergo regular ophthalmological examinations to detect and manage inflammation.

Answer 867

JIA is the most common chronic arthropathy and most common chronic rheumatic disorder of childhood. M:F 1:2 Mainly oligoarticular Mainly females <6yo Rheumatoid factor (RF)-negative polyarticular JIA is the next most common subtype and is also usually seen in young female children. RF-positive polyarticular JIA is typically seen in teenage girls. Black, Indian, and Native American children are more likely to have polyarticular JIA. Enthesitis-related JIA has male predominance, usually in boys after the age of 6 years. Systemic-onset juvenile idiopathic arthritis (SoJIA) comprises about 10% of all JIA and affects boys and girls equally.

Answer 868

``` STRONG Female HLA polymorphism <6yo FHx autoimmunity ``` WEAK ABx exposure in childhood

Answer 869

The exact aetiology is unknown. However, direct and indirect evidence points to the role of aberrant immune responses, suggesting that JIA is an autoimmune disorder. Breast-feeding may be protective Maternal smoking antenatally

Answer 870

COMMON RFs >6weeks duration Joint pain Joint swelling - commonly at the knees in oligoarticular JIA Fever - high spiking fevers often seen, interspersed with normal temperatures OTHER COMMON Morning stiffness - gets better throughout the day Limp (worse in morning) Limp Limited motion Rash - salmon coloured, non-pruritic, elicited by scratching the skin (koebner's phenomenon). Enthesitis UNCOMMON Limb length discrepancy Uveitis Rheumatoid nodules

Answer 871

FBC (exclude malignancy) - N / reduced haemoglobin / elevated platelets ESR - N / elevated CRP - N / elevated ANA - +ve or negative RF - +ve / -ve Anti-CCP - +ve / -ve Chlamidya test - exclude reactive arthritis Ferritin - could be abnormal US affected joints - abnormal MRI - synovial fluid; synovial thickening and/or synovial enhancement MRI may be indicated in patients with monoarticular disease to rule out other diagnoses such as pigmented villonodular synovitis or synovial haemangiomas. It can also be used to monitor cartilage injury.

Answer 872

ACUTE Physiotherapy and occupational therapy are encouraged in conjunction with medicines. Patients are encouraged to participate in activities such as swimming and cycling, and weight-bearing activities are indicated for those with a greater risk of low bone mineral density. NSAID: Naproxen / ibuprofen / celecoxib / indomethacin ONGOING Methrotrexate / sulfsalazine Oral corticosteroids - prednisolone. Move to intra-articular -> IV TNFa inhibitor, interleukin receptor antagonist or fusion protein

Answer 873

Reports suggest that 40% to 60% of patients achieve remission or inactive disease. However, outcome is variable depending on disease subtype, and long-term outcome is best predicted by disease characteristics at 5 years follow-up than at onset.

Answer 874

``` Leg length discrepancy, micrognathia Joint erosion C-spine fusion and c1/2 subluxation Sacroiliac joint and spine ankylosis Uveitis Macrophage activation syndrome ```

Answer 875

Juvenile idiopathic arthritis (JIA)

Answer 876

Juvenile idiopathic arthritis (JIA)

Answer 877

An inflammatory arthritis that occurs after exposure to certain gastrointestinal and genitourinary infections. The classical triad of post-infectious arthritis, non-gonococcal urethritis, and conjunctivitis is frequently described but found only in a minority of cases and not required for diagnosis. ReA belongs to the family of spondyloarthropathies, which share similar clinical, radiographic, and laboratory features that include spinal inflammation and an association with HLA-B27. They include psoriatic arthritis, ankylosing spondylitis, arthritis related to inflammatory bowel disease, and undifferentiated spondyloarthropathy. Patients may give a history of an antecedent genitourinary or dysenteric infection 1 to 4 weeks before the onset of arthritis. Presenting features include systemic symptoms such as fever, peripheral and axial arthritis, enthesitis (inflammation where tendons insert into bone), dactylitis (swelling of an entire finger or toe), conjunctivitis and iritis, and skin lesions including circinate balanitis and keratoderma blennorrhagicum. The peripheral arthritis in reactive arthritis (ReA) is usually an asymmetrical oligoarticular arthritis affecting the large joints of the lower limb, although monoarticular and polyarticular arthritis can also occur. There is no specific test for diagnosing ReA. Rather, a group of tests is used to confirm the suspicion in someone who has clinical symptoms suggestive of an inflammatory arthritis in the post-venereal or post-dysentery period. Treatment is aimed at symptomatic relief and preventing or halting further joint damage. Typical agents include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and disease-modifying antirheumatic drugs (DMARDs). Approximately 30% to 50% of patients will go on to develop some form of chronic ReA.

Answer 878

30-40 per 100k The attack rate of ReA after a C trachomatis infection ranges from about 4% to 8% post-dysentery ReA ranges from 1.5% to about 30%. One study found that the arthritis persisted at 2 years in nearly half (47%) of affected patients.

Answer 879

The most commonly implicated bacterial species are Chlamydia , Salmonella , Campylobacter , Shigella , and Yersinia species, although ReA has been described after many other bacterial infections.

Answer 880

STRONG Male HLA-B27 Preceding GI / chlamidya infection

Answer 881

Presence RFs Peripheral arthritis - The arthritis is most commonly an asymmetrical oligoarthritis. However, polyarticular and monoarticular arthritis can occur. There is usually a predilection for the larger joints in the lower extremity. The inflammation often leads to painful, swollen, warm, red, and stiff joints, especially in the morning. Swelling of entire digits (fingers or toes), termed dactylitis, is a specific finding within the spondyloarthropathies arising from flexor tenosynovitis. Usually, patients are defined as having chronic reactive arthritis (ReA) when joint symptoms have been present for more than 6 months. Axial (spinal) arthritis OTHER COMMON Constitutional symptoms - Fever, fatigue, and weight loss are common. Enthesitis ``` UNCOMMON Mucous membrane pains ulcers Keratoderma blennorrhagicum Circinate balanitis Ocular manifestations: Ocular inflammation in the form of conjunctivitis can cause redness, tearing, and a sterile purulent discharge during the acute period. Anterior uveitis (iritis), associated with HLA-B27 positivity, causes symptoms of pain, redness, and photophobia. Iritis often becomes chronic. Aortitis possible ```

Answer 882

ESR - High CRP - High ANA - negative RF - Negative Plain xray - sacroiliitis or enthesopathy Arthrocentesis with synovial fluid analysis - rule out gout Consider HLA-B27 - +ve or -ve. Kinda useless NAAT for chlamidya - may be positive for Chlamydia trachomatis or Neisseria gonorrhoeae

Answer 883

ACUTE 1. NSAIDs 2. Corticosteroids ONGOING DMARDs - Sulfsalazine 500mg

Answer 884

Secondary osteoarthritis Iritis / events Keratoderma blenorrhagicum

Answer 885

Approximately 50% of patients can expect symptoms to resolve within the first 6 months. However, 30% to 50% of patients will develop chronic reactive arthritis.

Answer 886

reactive arthritis

Answer 887

Septic arthritis is defined as the infection of 1 or more joints caused by pathogenic inoculation of microbes. It occurs either by direct inoculation or via haematogenous spread. A septic joint will be painful, hot, swollen, and restricted. Diagnosis is based on the opinion of the clinician experienced in the management of musculoskeletal disease. In all cases of suspected native joint sepsis, the joint should be aspirated. In all cases of suspected joint sepsis, empirical antibiotic therapy should be commenced once appropriate cultures have been taken.

Answer 888

The estimated incidence of septic arthritis in developed countries is 6 cases per 100,000 population per year. In patients with underlying joint disease or with prosthetic joints the incidence increases approximately 10-fold, to 70 cases per 100,000 of the population.

Answer 889

The predominant causative organisms of septic arthritis are staphylococci or streptococci. These organisms account for 91% of cases. Risk factors for the development of joint sepsis include rheumatoid arthritis or osteoarthritis, joint prostheses, intravenous drug abuse, alcohol use diabetes, previous intra-articular corticosteroid injection, and the presence of cutaneous ulcers Community-associated MRSA is becoming more common in many parts of the world and should be suspected in patients recently discharged from hospital, nursing home residents, those with leg ulceration, and those with indwelling urinary catheters.

Answer 890

``` STRONG Underlying joint disease - rheumatoid arthritis, osteoarthritis, or crystal arthritides Joint prosthesis IVDU DM Cutaneous ulcers ``` WEAK Alcohol use disorder Hx intra-articular corticosteroid injection

Answer 891

COMMON Hot, swollen, tender restricted joint ``` OTHER COMMON Low socio-E Hx IVDU, DM, cutaenous ulcers Prosthetic joint Hx other arthritis Short Hx Sx Fever ``` UNCOMMON Hx alcohol use Hx Corticosteroid injection

Answer 892

Synovial fluid gram stain and culture - presence of microorganisms Synovial fluid WCC - High Blood culture WCC ESR - can be high CRP = high Plain radiograph - may reveal degenerative changes USS - may show the presence of an effusion to guide aspiration

Answer 893

Suspected G+ve = vancomycin IV Suspected G-ve = cephalosporin ie ceftriaxone, cefotaxime IV ABx for 2 weeks Oral Abs for subsequent 4 weeks

Answer 894

Delayed or inadequate treatment can lead to irreversible joint destruction and subsequent disability. There is also an estimated case fatality rate of 11%. A survey in the UK revealed that certain factors might be associated with a poor prognosis including older age, pre-existing joint disease, and the presence of a joint prosthesis.

Answer 895

ABx allergic reaction Osteomyelitis Joint destruction

Answer 896

septic arthritis

Answer 897

septic arthritis

Answer 898

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition in which patients are excessively susceptible to the development of haemolytic anaemia. Affected people lack the ability to tolerate biochemical oxidative stress, and red cell haemolysis is the most important clinical consequence. Almost all patients are completely asymptomatic. However, infections, drugs, or ingesting broad beans can precipitate haemolysis. Newborns may have prolonged and/or severe neonatal hyperbilirubinaemia. An inherited (X-linked) enzyme deficiency that is common among populations originating from parts of the world where malaria is or was common: that is, sub-Saharan Africa, Asia, the Mediterranean region, and the Middle East. Most patients are asymptomatic. Most common manifestations are prolonged or severe neonatal jaundice and haemolytic anaemia in association with infection or following consumption of broad beans or certain drugs. Diagnosis is made from blood tests including smear review and the specific enzyme assay. Patients should be advised to avoid precipitant factors, especially oxidative drugs and broad beans.

Answer 899

It is one of the most common enzyme deficiency states in the world, and one of the most frequent inherited disorders. 400ml WW The highest prevalence is in people of African, Mediterranean, and Asian heritage. The prevalence in Kurdish Jews is 50%-70%. G6PD confers a degree of protection against malaria

Answer 900

The gene for G6PD is located at the end of the long arm of the X chromosome. The deficiency is thus seen in hemizygous males (who have a mutation on their sole X chromosome) and in homozygous females (who have a mutation on each of their X chromosomes; very rarely seen in most X-linked diseases, but frequent in populations where G6PD deficiency is common [e.g., Africa]).

Answer 901

STRONG Male Neonate Ethnic origin in the Mediterranean, sub-Saharan Africa, Middle East, or Southeast Asia FHx Oxidative drug exposure: (e.g., dapsone, primaquine, sulphonamides, caution aspirin) Infection: Bacterial (e.g., lobar pneumonia, typhoid) and viral (e.g., hepatitis) infections have been particularly implicated. Synonyms for fava beans include broad beans, fever beans, and English dwarf beans.

Answer 902

``` COMMON RFs Jaundice Pallor Dark urine ``` OTHER COMMON Nausea UNCOMMON Splenomegaly

Answer 903

FBC - anaemia and normochromic red cell index Reticulocyte count - raised Urinalysis - haemoglobinuria Unconjugated bilirubin - high LDH - high Haptoglobin - Binds free haemoglobin; low plasma values suggest intravascular haemolysis. Peripheral blood smear - anisocytosis, abnormal forms, bite cells, HEINZ BODIES Genetic testing possible but rarely needed

Answer 904

Acute haemolysis Supportive care + folic acid 5mg Haemoglobin <70g/L = blood transfusion Haemoglobin <70g/L + renal impairment = blood transfusion and dialysis NEONATES WITH PROLONGED INDIRECT HYPERBILIRUBINAEMIA Phototherapy + exchange transfusion Splenectomy may be considered for those with significant extravascular haemolysis, marked splenomegaly, or persistent severe anaemia that is interfering with growth, development, or normal activity. This may result in a significant decrease in haemolysis. Cholecystectomy may be considered at the same time if gallstones are present. Patients who are about to undergo splenectomy should receive appropriate immunisations (against pneumococcus, meningococcus, and Haemophilus influenzae ) and start long-term antibiotic prophylaxis to protect against infection by capsulated bacterial organisms.

Answer 905

Almost all patients are asymptomatic and develop problems only when they encounter a haemolytic challenge in response to oxidative stress. The prognosis for complete recovery is excellent. Patients may benefit from receiving an information sheet on the condition specifying that they must avoid triggers for oxidative stress, including certain drugs (e.g., dapsone, primaquine, sulphonamides, and aspirin), and that they may develop haemolysis after eating broad beans and at times of infection.

Answer 906

Kernicterus Cataract Gallstones Increased susceptibility to sepsis

Answer 907

glucose-6-phosphate dehydrogenase (G6PD) deficiency

Answer 908

A fracture is an abnormal disruption in the continuity of a bone and is often referred to as a broken bone. For the purposes of this monograph, long bones are defined as the humerus, radius, ulna, femur, tibia, and fibula. This monograph focuses on extra-articular fractures (i.e., fractures that do not extend into a joint). This monograph covers long bone fractures and includes fractures of the humerus, radius, ulna, femur, tibia, and fibula. Acute fractures usually have a dramatic presentation, whereas stress fractures often present more subtly. Acute fractures in older people often occur with relatively low-energy trauma, whereas in younger patients with previously healthy bone, they usually result from higher-energy trauma. Associated injuries should be diligently searched for and neurovascular status should be evaluated. At least two 90° orthogonal x-rays (e.g., anteroposterior and lateral) should be obtained, with inclusion of the joints proximal and distal to the site of suspected injury. Proper immobilisation, analgesia, and timely orthopaedic referral as appropriate can greatly enhance patient comfort and ensure optimal outcome. Some non-displaced long bone fractures can be treated conservatively, but consultation with an orthopaedist is generally recommended. Potential life-threatening complications include acute compartment syndrome, fat embolism, and haemorrhage.

Answer 909

The tibia is the most frequently fractured long bone in humans. 21 per 1000 (for all types) As global standards of living and lifespan have increased, so too have osteoporotic fractures, as have fractures among those with chronic disease. In patients with chronic renal failure, risk factors include female sex, advanced age, and diabetes, whereas black people and those with increased BMI seemed to be protected. Among dialysis patients, long bone fracture is associated with increased risk of stroke, pulmonary embolism, congestive heart failure, pneumonia, and septicaemia.

Answer 910

Among otherwise healthy adults, high-energy trauma (e.g., motor vehicle accidents), sport injuries, falls, and assaults are the main causative factors. Humeral shaft fractures: Commonly result from direct trauma to the humerus and falls onto the outstretched hand. [17] [18] Less commonly, extreme muscle contraction, electrocution injury, or seizure may lead to humeral shaft fracture. [19] Proximal humeral shaft fractures: Typically seen in older people after a fall on the outstretched hand. Direct trauma and seizures may also lead to these fractures. [20] Humeral stress fractures: Primarily occur as a result of overuse among throwing athletes. Gymnasts, weightlifters, and other athletes who place repetitive high-impact or -torque loads on the humerus have also been known to sustain these injuries. Radial and ulnar shaft fractures: Radial shaft fractures usually result from a fall onto the outstretched or pronated wrist, or from a direct blow. High-torque forces from twisting injuries can also cause such injuries. Isolated fractures of the mid shaft of the ulna, often called nightstick fractures, usually result from a person trying to ward off a blow from a heavy, blunt object (e.g., a night stick or truncheon). If the ulnar fracture involves the proximal third of the shaft, there may be associated dislocation of the radial head at the elbow (Monteggia fracture/dislocation). Monteggia fractures are usually due to a fall onto the outstretched hand, with the elbow extended and pronated. [21] Concomitant fractures of both the radius and the ulna are usually the result of high-energy trauma from a blow, fall, or motor vehicle accident. Radial and ulnar stress fractures: Primarily occur among athletes who repetitively load the bones with high forces (e.g., gymnasts). [22] [23] Femoral shaft fractures: Generally caused by high-energy trauma, such as a motor vehicle accident, or fall from a height. Spiral fractures of the femoral shaft may occur as a result of a twisting injury. Comminuted and open fractures may occur from gunshot wounds or other forms of high-energy penetrating trauma. Femoral stress fractures: Commonly seen in athletes and runners. Tibial and fibular shaft fractures: Tibial shaft fractures may result from direct trauma (usually causes transverse or comminuted fractures) or indirect twisting forces (usually causes spiral or oblique fractures). [24] High-energy trauma may result in simultaneous fracture of both the tibial and fibular shafts. Isolated fibular fractures are typically caused by a direct blow to the outer aspect of the leg or from an external rotation force at the ankle. Tibial and fibular stress fractures: Stress fractures are relatively common in impact athletes, such as runners, basketball players, and military personnel. [25] [26] Stress fractures of the fibula are uncommon but typically occur in runners and ballet dancers.

Answer 911

``` STRONG Direct trauma Indirect trauma Osteoporosis Bone tumour Age >70 Age <30 Prolonged corticosteroids Low BMI Hx of fall Prior fracture Seizures Long term bisphosphonate use ``` ``` WEAK Chronic RF DM Male sex (acute fractures) Female sex (stress and insufficiency) ```

Answer 912

``` Pain Swelling Ecchymosis Expanding haematoma Impaired limb function Inability to bear weight Point tenderness Deformity Guarding Wound overlaying site of injury Signs of ischaemic limb -Includes: loss of distal pulses, pallor, increased pain with passive stretch of tissues distal to fracture site, paraesthesias, and poikilothermia. Hypotension/hypovolaemic shock ``` ``` OTHER Altered nerve sensation Impaired motor function Bony crepitus Callus ```

Answer 913

X-ray limb 2 plains | FBC, blood typing, and cross-matching (major trauma) - may show acute drop in haematocrit

Answer 914

Orthopaedic consultation Immobilisation Analgesia Elevation and ice Consider ABx, tetanus toxoid

Answer 915

``` VTE Infection Compartment syndrome Fat embolism Malunion Delayed union Adhesive capsulitis Non-union Avascular necrosis ```

Answer 916

Long bone fracture

Answer 917

``` VTE Infection Compartment syndrome Fat embolism Malunion Delayed union Adhesive capsulitis Non-union Avascular necrosis ``` With recent advances in emergency transport and orthopaedic surgical technique, many patients with high-energy trauma now survive their injuries and go on to complete or near complete recovery. Naturally, the nature, severity, and number of injuries dictate the prognosis for a given person. Humeral fractures Proximal humerus fractures usually heal well, but disruption of the vascular supply can lead to avascular necrosis (AVN) of the humeral head. Shaft (diaphyseal) fractures are often complicated by neurovascular injury (i.e., radial nerve injury) and non-union. Radial and ulnar fractures Appropriate surgical intervention leads to satisfactory outcome for most of these injuries. Femur fractures Proximal injuries may lead to femoral head AVN and may require hip arthroplasty. Massive bleeding, neurovascular injury, fat embolism syndrome, venous thromboembolic disease, and other complications may occur. If the patient survives the initial trauma, the outlook is generally good. Tibial and fibular fractures Operative management of tibial shaft fractures generally leads to good outcomes. Non-displaced fractures generally heal well with conservative treatment. Open fractures are associated with high risk of infection, and compartment syndromes must be detected and treated early. Isolated fibular fractures usually heal well with non-operative management. Healing of non-operatively treated tibial shaft fractures has been shown to be delayed among smokers [94] and (with transverse tibial fractures) among alcohol abusers.

Answer 918

Long bone fracture

Answer 919

Long bone fracture

Answer 920

Puberty is an interval characterised by the acquisition of the secondary sexual characteristics, accelerated linear growth, increase in the secretion of sex hormones, maturation of gonads (testes in boys; ovaries in girls), and the potential for reproduction. It is typically complete within 2 to 5 years. Delayed puberty is defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys. Defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys. More common in boys. May be functional (constitutional delay, underlying chronic disease, malnutrition, excessive exercise) or organic, due to either a lack of serum gonadotrophin production or action (hypogonadotrophic hypogonadism), or gonadal insufficiency with elevated gonadotrophins (hypergonadotrophic hypogonadism). Most patients seek medical assistance because of slow growth rather than slow pubertal development. Careful assessment of height and pubertal stage is crucial for evaluation of the underlying cause. The distinction between organic gonadotrophin deficiency and constitutional delay of puberty is not easy and is often resolved only with time. Patients with constitutional delay are typically observed. Sex-steroid treatment is reserved for those with psychosocial maladaptation, and consists of a short course of sex steroids to induce puberty. Patients with an organic cause for delay are given sex-steroid therapy to induce puberty and are most likely to require lifelong hormone replacement therapy after puberty is complete.

Answer 921

The exact prevalence and incidence of children presenting with a delay in pubertal development is unknown. The majority of patients are boys. The prevalence of primary amenorrhoea in the US is <0.1%, [1] that of Turner's syndrome is 1 in 2500 live-born females, [2] [3] and that of Klinefelter's syndrome is 1 in 1500 live-born males.

Answer 922

The vast majority of patients presenting with delayed puberty have only a temporary delay due to a central inhibition of the hypothalamo-pituitary axis that resolves with time and serial observation (functional delay). Constitutional delay is the most common cause of temporary delayed sexual maturation in boys. It tends to occur within families and is associated with short stature that is appropriate for the skeletal age. [12] It may occasionally be difficult to distinguish from organic gonadotrophin deficiency. A temporary or reversible delay in puberty may also occur due to any chronic illness in children (e.g., cystic fibrosis, inflammatory bowel disease, coeliac disease, poorly controlled diabetes mellitus), excessive physical exercise, malnutrition and eating disorders (anorexia nervosa), and prolonged stress. Organic causes may be due to a hypothalamo-pituitary cause or due to gonadal abnormality. Hypothalamo-pituitary disorders Congenital gonadotrophin deficiency can be isolated or be associated with combined pituitary hormone deficiencies. It can also be associated with other systemic features such as anosmia in Kallman's syndrome, [13] midline brain disorders in septo-optic dysplasia and holoprosencephaly, [14] adrenal hypoplasia, [15] or with other syndromes such as Prader-Willi, Bardet-Biedl, and CHARGE syndromes. Several genes have been linked to the pathogenesis of congenital gonadotrophin deficiency, including KAL1, FGFR1, GPR54, Kiss-1, GnRHR, PROK2, PROKR2, NELF, DAX1, LH and FSH beta-subunit, leptin, leptin receptor, and prohormone convertase 1 (PC1) genes. [16] Acquired forms of gonadotrophin deficiency are associated with intracranial trauma, tumours, surgery, or radiotherapy. [17] Histiocytosis, sickle cell disease, and iron overload (associated with transfusion) can result in permanent gonadotrophin deficiency. [18] Gonadal disorders Congenital disorders include cryptorchidism/anorchia. Chromosomal disorders include Klinefelter's syndrome (XXY), [19] Turner's syndrome (45XO), [20] XY gonadal dysgenesis, and 45X/46XY mixed gonadal dysgenesis. Acquired causes include testicular torsion, polyglandular autoimmune diseases, [21] chemotherapy, viral infections (such as mumps), pelvic or abdominal radiation, [22] and testicular or ovarian surgery.

Answer 923

STRONG ``` FHx delayed puberty Congenital pituitary structural abnormalities Gene mutations Chromosomal disorders [Klinefelter's syndrome (XXY), Turner's syndrome (45XO), XY gonadal dysgenesis, and 45X/46XY mixed gonadal dysgenesis are associated with dysgenetic gonads and hypergonadotrophic hypogonadism.] Prader willi Eating disorders Chronic systemic illnesses Malnutrition Intense exercise Cryptorchidism Pituitary surgery Adrenal hypoplasia ``` ``` WEAK Chemo/radio Histiocytosis Sickle cell disease Iron overload ```

Answer 924

RF presence Boy test size <3ml [4ml, longitudinal length >2.5cm = onset of puberty] Girls - absent breast development Absent pubic/axillary hair - Pubic and axillary hair, acne, and body odour develop as a result of androgens secreted from the adrenal gland. The onset of axillary hair occurs in mid-puberty. Absence of menarche Absent growth spurt Anosmia (kallmans) OTHER Short statur Dysmorphic features

Answer 925

Non-dominant wrist x-ray - helps estimate skeletal age - delayed bone age seen Basal LH/FSH - low in hypogonadotrophic hypogonadism; elevated in hypergonadotrophic hypogonadism Consider LHRH stimulation test - low FSH and LH levels post-stimulation in hypogonadotrophic hypogonadism MRI brain - if basal gonadotrophins are low: normal or pituitary tumour, forebrain defects, olfactory hypoplasia Karyotype - turners/kleinfelters Serum ovarian autoantibodies - +ve in autoimmune endocrinopathy TFTs - Hypothyroidism can cause hypogonadotrophic hypogonadism. Serum prolactin - hyperprolactinaemia delays puberty Chek other pituitarty hormones - panhypopituitarism

Answer 926

CONSITUTIONAL DELAY - observe + monitor MALE: Can give Testosterone / oxandrolone (increase growth velocity) FEMALE: Short course of estradiol [add cyclical progesterone to promote endothelial shedding] TREAT ANY UNDERLYING CHRONIC ILLNESSES (EG COELIAC) Persistent hypogonadism post-puberty = testicle / breast implants

Answer 927

Overall outlook relates to the underlying cause of delayed puberty rather than to the delay itself. Patients with a temporary delay, such as those with constitutional delay in puberty, have an excellent prognosis and achieve normal gonadal function post-puberty without testosterone (or oestrogen) replacement therapy. Similarly, patients with a chronic illness, malnutrition, or intense exercise typically recover normal gonadal function after resolution of the illness or exercise. Patients with a permanent cause, such as organic gonadotrophin deficiency, Turner's syndrome, Klinefelter's syndrome, or previous pituitary surgery for a craniopharyngioma, require lifelong hormone therapy. Osteoporosis Psychological problems Skin irritation from gels and patches Polycythaemia

Answer 928

Overall outlook relates to the underlying cause of delayed puberty rather than to the delay itself. Patients with a temporary delay, such as those with constitutional delay in puberty, have an excellent prognosis and achieve normal gonadal function post-puberty without testosterone (or oestrogen) replacement therapy. Similarly, patients with a chronic illness, malnutrition, or intense exercise typically recover normal gonadal function after resolution of the illness or exercise. Patients with a permanent cause, such as organic gonadotrophin deficiency, Turner's syndrome, Klinefelter's syndrome, or previous pituitary surgery for a craniopharyngioma, require lifelong hormone therapy. Osteoporosis Psychological problems Skin irritation from gels and patches Polycythaemia

Answer 929

Delayed puberty

Answer 930

Delayed puberty

Answer 931

Puberty is an interval characterised by the acquisition of the secondary sexual characteristics, accelerated linear growth, increase in the secretion of sex hormones, maturation of gonads (testes in boys; ovaries in girls), and the potential for reproduction. It is typically complete within 2 to 5 years. Precocious puberty should be considered when secondary sexual characteristics appear before 8 years in girls and 9 years in boys. It also results in accelerated skeletal development with a reduced adult height. Should be considered when secondary sexual characteristics appear before 8 years of age in girls and 9 years in boys. Results in accelerated skeletal development with a reduced adult height, and may have a psychosocial impact. Two forms exist: gonadotrophin-dependent (GDPP; due to premature activation of the hypothalamo-pituitary-gonadal axis) and gonadotrophin-independent (GIPP; due to autonomous secretion of sex steroids). History should be directed dependent on whether puberty is consonant or disconsonant (i.e., whether the pattern of endocrine change is the same as in normal puberty or not). Treatment of GDPP is usually straightforward with gonadotrophin-releasing hormone agonists. GIPP is more difficult to treat; may require ketoconazole, or aromatase inhibitors and anti-androgens. Treatment should be stopped once an acceptable age of puberty is reached.

Answer 932

1 in 5000 Gonadotrophin-dependent precocious puberty (GDPP) or central precocious puberty affects girls 10 times more commonly than boys.

Answer 933

Causes can be divided into those that are central or gonadotrophin-dependent, in which there is premature activation of the hypothalamo-pituitary-gonadal axis; and those due to premature activation of the ovaries, testes, or adrenal glands independent of gonadotrophin secretion (gonadotrophin-independent precocious puberty [GIPP]). Gonadotrophin-dependent precocious puberty (GDPP): ``` Idiopathic (90% of females) Brain neoplasms Cranial radiotherapy Neurodisability Post-traumatic head injury Child adoption/sexual abuse ``` Gonadotrophin-independent precocious puberty (GIPP): Ovarian causes: follicular cysts of the ovary, granulosa cell tumours, Leydig cell tumours, and gonadoblastoma. Testicular causes: Leydig cell tumours and a defect of luteinising hormone (LH) receptor function (testotoxicosis or familial GIPP). The latter is caused by an activating mutation in the LH receptor gene. Adrenal causes: 21-hydroxylase congenital adrenal hyperplasia (CAH) in males results in GIPP. CAH in females presents with signs of virilisation (e.g., pubic and axillary hair and clitoromegaly) but no breast development. Other adrenal causes include Cushing's syndrome and an adrenal virilising tumour. McCune-Albright syndrome (MAS) Exposure to exogenous hormones such as the contraceptive pill or testosterone gels may be responsible for early pubertal development in some patients. Oestrogenic agents in cosmetics and food products have also been implicated in causing an earlier age of puberty; 'epidemics' of premature thelarche (isolated breast development) in some geographic areas may be linked to an environmental exposure to oestrogens. HCG tumour

Answer 934

``` STRONG Brain tumour Cranial irradiation McCune Albright syndrome Gonadal tumours Congenital adrenal hyperplasia ``` ``` WEAK +ve FHx Exposure to exogenous hormones Head injury NF1 Hydrocephalus Congenital pituitary abnormalities ```

Answer 935

``` COMMON Boys testes >4ml / 2.5cm Girls breast development Pubic/axilliary hair Menarche Increased growth velocity Tall stature ``` OTHER UNCOMMON ``` Cafe au lat Sx of autonomous endocrine hyperfunction Polyostotic fibrous dysplasia Facial dysmorphism Clitoromegaly Eye abnormalities Motor deficits Abnormal head size ```

Answer 936

Bone age assessment - enhanced Basal LH/FSH - low in gonadotrophin-independent precocious puberty (GIPP); elevated in gonadotrophin-dependent precocious puberty (GDPP) Serum testosterone/oestrogen - high US pelvis - ovarian cyst(s), tumours, uterine enlargement ± endometrial echo LHRH stimulation - elevated gonadotrophins in GDPP; suppressed gonadotrophins in GIPP

Answer 937

GDPP GnRH agonist - Continuous exposure to GnRH suppresses puberty, as it is only pulsatile exposure that triggers pubertal progression. GnRH agonists are the only effective treatment modality for GDPP. Leuprorelin, triptorelin, or goserelin depot preparations +/- somatotrophin - (Treatment with gonadotrophin-releasing hormone (GnRH) agonists can lead to a reduction in the growth rate due to a reduction in GH and insulin-like growth factor 1 (IGF1) concentrations.) Cyproterone is a peripherally-acting anti-androgen that suppresses both gonadotrophin and gonadal function. Gonadotrophin independent: Ketoconazole acts as an inhibitor of steroid synthesis and suppresses both gonadal and adrenal steroid production, and is typically a first-line treatment. It helps decrease testosterone levels and achieve good growth. Ketoconazole may cause severe liver injury and adrenal insufficiency. Cyproterone is a peripherally-acting anti-androgen that suppresses both gonadotrophin and gonadal function and may be used as alternative first-line therapy. Patients may need additional pharmacotherapy to prevent the synthesis or action of gonadal steroids. Options include aromatase inhibitors (e.g., testolactone, letrozole, anastrozole), and anti-androgens (e.g., spironolactone or bicalutamide). CAH Adjust hydrocortisone Rx, GNRH agonists

Answer 938

Short stature | Psychological problems

Answer 939

Haemophilia is a bleeding disorder, usually inherited with an X-linked recessive inheritance pattern, which results from the deficiency of a coagulation factor. Haemophilia A results from the deficiency of clotting factor VIII. Haemophilia B results from the deficiency of clotting factor IX. Acquired haemophilia is a separate non-inherited condition. It is much rarer than congenital haemophilia and has an autoimmune-related aetiology with no genetic inheritance pattern. A bleeding disorder, usually inherited, characterised by the deficiency of coagulation factor VIII or IX. Occurs almost exclusively in males due to an X-linked pattern of inheritance. Graded as mild, moderate, or severe, based on factor VIII or IX level. Musculoskeletal bleeding is the most common type of haemorrhage. Treatment consists of coagulation factor VIII or IX replacement. A major complication of treatment is the development of inhibitory antibodies against infused factor VIII or IX.

Answer 940

``` A = 1 in 5000 B = 1 in 30,000 ``` X linked Therefore, boys and/or men are exclusively affected, although many female carriers (approximately 30%) have clotting factor levels in the haemophilia range due to lyonization (random inactivation of the normal X chromosome) and may have bleeding symptoms requiring appropriate management. Rare cases of girls and/or women with severe haemophilia are described because of extreme lyonization, homozygosity, mosaicism, or Turner syndrome. Acquired haemophilia is rare, with an incidence of acquired haemophilia A in the UK of 1.48 per million per year.

Answer 941

STRONG FHx Male sex (congenital) Age >60 (acquired) Autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy, postpartum, or malignancy (acquired haemophilia)

Answer 942

X linked Therefore, boys and/or men are exclusively affected, although many female carriers (approximately 30%) have clotting factor levels in the haemophilia range due to lyonization (random inactivation of the normal X chromosome) and may have bleeding symptoms requiring appropriate management. Rare cases of girls and/or women with severe haemophilia are described because of extreme lyonization, homozygosity, mosaicism, or Turner syndrome. Acquired haemophilia is rare, with an incidence of acquired haemophilia A in the UK of 1.48 per million per year.

Answer 943

Hx recurrent / severe bleeding (spontaneous or trauma induced) Onset may be DELAYED by several days Recurrent nasal / oral mucosal bleeding Bleeding into muscles = hallmark = Presents with pain and swelling of the involved area, commonly extremities, with decreased range of motion, erythema, and increased local warmth Prolonged bleeding following heel prick Haemoarthrosis UNCOMMON 3-5% present with intracranial bleeding - Symptoms and signs are not specific, but include hypoactivity, decreased oral intake, irritability, bulging/tense fontanelle, seizures, and pallor. OTHER COMMON Fatigue (anaemia signs) Menorrhagia (may present if woman carrier) Extensive cutaneous purport (acquired haemophilia) UNCOMMON GI bleeding + haematuria Distended/painful abdomen Pallor, tachycardia, tachypnoea, hypotension

Answer 944

``` FBC - rule out thrombocytopenia APTT - prolonged Mixing study - differentiates between acquired and inherited haemophilia - pts plasma mixed with normal plasma. In acquired the prolonged APTT cannot be corrected. Plasma F8/9 deficiency = decreased/absent in A/B PT time - Normal [VWD] Plasma VWF assay - N Factor 5/7 assay - N Bleeding time - checks platelet function Serum AST/ALT - N Plain Xray - if haemoarthrosis ```

Answer 945

HAEMOPHILIA A 1. Desmopressin (increases production of F8 (as well as VWF) + Antifibronolytic - tranexamic acid / aminocaproic acid 2. F8 concentrate - octocog alfa / efmoroctocog alfa + antifibrinolytic HAEMOPHILIA B 1. Coagulation factor IX (recombinant): haemophilia B: consult specialist for guidance on dose + antifibrinolytic FAILURE: Can move up to high-dose factor concentrates Recurrent haemoarthosis: Radioactive synovectomy Acquired Rx: Replace 8/9 Potentially use bypassing agents + IMMUNOSUPPRESION WITH PREDNISOLONE

Answer 946

``` Compartment syndrome Allergic reaction to infused product Joint damage Blleding/life threatening haemorrhage Devopment of Rx related inhibitors to factor 8/9 Blood borne infections ``` Advances in treatment over the last several decades have allowed a near-normal lifestyle and lifespan for most patients with haemophilia A and B. Preservation of joint function may be achieved, even in patients with severe haemophilia A or B, with the use of prophylaxis (intravenous factor replacement given for at least 45 weeks/year in anticipation of, and to prevent, bleeding). However, the high cost of prophylaxis has prevented its implementation in developing countries. Therefore, complications of haemophilia, such as chronic joint arthropathy, are still a common occurrence, primarily in those who are not receiving prophylactic factor infusions or have developed inhibitors to factor VIII or factor IX.

Answer 947

Immune thrombocytopenic purpura (ITP) is a clinical syndrome in which a decreased number of circulating platelets (thrombocytopenia) (see the image below) manifests as a bleeding tendency, easy bruising (purpura), or extravasation of blood from capillaries into skin and mucous membranes (petechiae). Although most cases of acute ITP, particularly in children, are mild and self-limited, intracranial hemorrhage may occur when the platelet count drops below 10 × 109/L (< 10 × 103/µL); [1] this occurs in 0.5-1% of children, and half of these cases are fatal.

Answer 948

3 per 100k Children + >60yos Peaks in winter Persistence or chronicity occurred in 36% of children compared with 67% of adults. In adults, 18% of ITP cases were secondary, with malignancy the main cause.

Answer 949

In children, most cases of immune thrombocytopenic purpura (ITP) are acute, manifesting a few weeks after a viral illness. In adults, most cases of ITP are chronic, manifesting with an insidious onset, and occur in middle-aged women. These clinical presentations suggest that the triggering events may be different. However, in both children and adults, the cause of thrombocytopenia (destruction of antibody-coated platelets by mononuclear macrophages) appears to be similar. ``` RFs Child >60 Winter Viral illness preceding Malignancy (adults) Child - M>F Elderly - F>M ```

Answer 950

ITP is a primary illness occurring in an otherwise healthy person. Signs of chronic disease, infection, wasting, or poor nutrition indicate that the patient has another illness. Splenomegaly excludes the diagnosis of ITP. An initial impression of the severity of ITP is formed by examining the skin and mucous membranes, as follows: Widespread petechiae and ecchymoses, oozing from a venipuncture site, gingival bleeding, and hemorrhagic bullae indicate that the patient is at risk for a serious bleeding complication If the patient's blood pressure was taken recently, petechiae may be observed under and distal to the area where the cuff was placed and inflated Suction-type electrocardiograph (ECG) leads may induce petechiae Petechiae over the ankles in ambulatory patients or on the back in bedridden ones suggest mild thrombocytopenia and a relatively low risk for a serious bleeding complication Findings suggestive of intracranial hemorrhage include the following: Headache, blurred vision, somnolence, or loss of consciousness Hypertension and bradycardia, which may be signs of increased intracranial pressure On neurologic examination, any asymmetrical finding of recent onset On fundoscopic examination, blurring of the optic disc margins or retinal hemorrhage

Answer 951

FBC - isolated thrombocytopenia Blood smear - normal morphology of RBC/WBCs, normal platelet morphology but reduced numbers. May see large platelets Many children with acute ITP have an increased number of normal or atypical lymphocytes on the peripheral smear, reflecting a recent viral illness. Clumps of platelets on a peripheral smear prepared from ethylenediaminetetraacetic acid (EDTA)–anticoagulated blood are evidence of pseudothrombocytopenia. In children, bone marrow examination is not required except in patients with atypical hematologic findings, such as immature cells on the peripheral smear or persistent neutropenia.. No single laboratory result or clinical finding establishes a diagnosis of ITP; it is a diagnosis of exclusion. The differential diagnosis includes such other causes of thrombocytopenia as leukemia, myelophthisic marrow infiltration, myelodysplasia, aplastic anemia, and adverse drug reactions. Pseudothrombocytopenia due to platelet clumping is also a diagnostic consideration.

Answer 952

ITP has no cure, and relapses may occur years after seemingly successful medical or surgical management. Most children do not require rx - will resolve spontaneously Treatments possible: 1. Oral prednisone, IV methylprednisolone, or high-dose dexamethasone may be used 2. IVIG 3. Rituximab

Answer 953

More than 80% of children with untreated immune thrombocytopenic purpura (ITP) have a spontaneous recovery with completely normal platelet counts in 2-8 weeks. Fatal bleeding occurs in 0.9% upon initial presentation. Most cases of intracranial hemorrhage occur in patients whose platelet counts are less than 10 × 109/L (< 10 × 103/µL). This situation occurs in 0.5-1% of cases in children, and half of those are fatal

Answer 954

Haemophilia

Answer 955

Haemophilia

Answer 956

Haemophilia

Answer 957

Anaemia in childhood is defined as a haemoglobin (Hb) concentration below established cut-off levels. These levels are <11 g/dL in children aged 6-59 months, <11.5 g/dL in children aged 5-11 years and 12 g/dL in older children (aged 12-14)[1].

Answer 958

WW = dietary mainly

Answer 959

May be asymptomatic. Fatigue. Shortness of breath. Left upper quadrant pain (if there is associated splenomegaly). Right upper quadrant pain (secondary to cholelithiasis in haemolytic anaemia). Failure to thrive. Symptoms related to underlying disease pathology - eg, acute pain in sickle cell crises and chronic/recurrent diarrhoea, which can suggest a malabsorption syndrome such as coeliac disease. Cardiovascular system - look for exertional tachycardia, a systolic flow murmur. Gallop rhythm, cardiomegaly and hepatomegaly are signs of congestive cardiac failure. Plot weight, height and head circumference - in chronic anaemia, growth can be affected, usually with preservation of head circumference. Pallor - examine conjunctivae, nail beds, palmar creases. Petechiae and bruising - may be a sign of thrombocytopenia secondary to marrow aplasia or malignancy or of vasculitis. Splenomegaly - this occurs in chronic haemolysis and malignancy. Papulovesicular lesions on the feet - this may indicate hookworm infestation. Dysmorphic features of Fanconi's anaemia - small stature, small head, frontal bossing, absent thumbs, hyperpigmented skin. Jaundice - this may be present in haemolytic anaemias.

Answer 960

FBC - dec Hb Hct Low MCV - ID Reticulocyte count - H Iron, ferritin and total iron binding capacity levels - Low, Low, High Check coeliac Blood film - anisocytosis, poikilocytosis, hypochromic cells, pencil cells

Answer 961

Ferrous sulfate - For Child 6–17 years 200 mg 2–3 times a day The haemoglobin concentration should rise by about 100–200 mg/ 100 mL (1–2 g/litre) per day or 2 g/100 mL (20 g/litre) over 3–4 weeks. When the haemoglobin is in the normal range, treatment should be continued for a further 3 months to replenish the iron stores. Epithelial tissue changes such as atrophic glossitis and koilonychia are usually improved, but the response is often slow.

Answer 962

Most children have a good capacity for tolerating low Hb levels and the morbidity of childhood anaemia is usually related to the primary disease process rather than the anaemia itself.

Answer 963

Sickle cell anaemia (sickle cell disease) is caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin (HbA), which results in production of sickle cell haemoglobin (HbS). Other forms of sickle cell disease may occur if HbS is inherited from one parent and another abnormal haemoglobin or beta thalassaemia is inherited from the other parent (e.g., HbSB-thal or HbSC). Sickle cell anaemia is associated with varying degrees of anaemia, red cell haemolysis, and obstruction of small blood capillaries causing painful crises, damage to major organs, and increased vulnerability to severe infections. Sickle cell trait occurs if HbS is inherited from one parent and the normal HbA from the other. Disease of red blood cells caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin (HbA), which results in sickle cell haemoglobin (HbS). Sickle cells can obstruct blood flow and break down prematurely, and are associated with varying degrees of anaemia. Obstruction of small blood capillaries can cause painful crises, damage to major organs, and increased vulnerability to severe infections. Associated with lifelong morbidity and reduced life expectancy. All infants are screened, with findings confirmed by haemoglobin electrophoresis, full blood count, reticulocyte count, and peripheral blood smear. Treatment goals include symptom control (including pain management), and prevention and management of complications.

Answer 964

Sickling occurs when red blood cells containing sickle haemoglobin become rigid and distorted into a crescent shape. In sickle cell anaemia, valine replaces glutamic acid at the sixth amino acid of the beta globin chain, as a result of a recessive single gene mutation. Valine can fit into the hydrophobic pocket of another haemoglobin molecule, causing the haemoglobin to polymerise within the red cell, thus forming long stiff fibres of haemoglobin tetramers. Sickle cell trait occurs when a child inherits a sickle gene from one parent and a normal gene from the other parent. Sickle cell disease occurs when a child inherits a sickle gene from each parent. Sickle beta-thalassaemia occurs when a child inherits a sickle gene from one parent and a beta-thalassaemia gene from the other parent. In patients with sickle beta-thalassaemia, a mutation of the beta gene blocks production of the normal beta globin chain (beta 0) or reduces its production (beta +). Haemoglobin SC disease occurs when a child inherits a sickle gene from one parent and haemoglobin C mutation from the other parent. The haemoglobin C mutation is an amino acid substitution of lysine for glutamic acid at the 6th position of the beta globin chain. Those with haemoglobin SC disease make no haemoglobin A.

Answer 965

1 in 2000 births 8% black people carry the gene Prevalence is 10% to 30% in sub-Saharan Africa

Answer 966

Sickle cell is an autosomal-recessive trait. Sickle cell anaemia occurs in 1 in 4 pregnancies when both parents carry the sickle cell gene.

Answer 967

COMMON Parents with SCD/trait Persistent pain in skeleton, chest or abdomen Diactylitis ``` OTHER COMMON High temperature Pneumonia like syndrome Bone pain Visual floaters Tachypnoea Failure to thrive Pallor Jaundice Tachycardia Lethargy ``` ``` UNCOMMON Maxillary hypertrophy with overbite Protuberant abdomen Cardiac systolic murmur (in infants secondary to anaemia) Shock - splenic sequestration ```

Answer 968

DNA Assay - replacement of both beta haemoglobin subunits with HbS is diagnostic for sickle cell anaemia (HbSS); presence of 1 normal beta haemoglobin subunit and 1 HbS is diagnostic for sickle cell trait Cellulose acetate electrophoresis - sickle cell anaemia 75% to 95% HbS, HbA is notably absent; sickle cell trait 40% HbS, <2% HbF, 60% HbA HPLC - High-performance liquid chromatography (HPLC) Peripheral blood smear - presence of nucleated red blood cells, sickle-shaped cells, and Howell-Jolly bodies FBC + reticulocyte - some degree of anaemia occurs in most patients Iron studies - serum iron, transferrin, ferritin levels, and serum iron-binding capacity are normal or elevated Do CXR if suspecting ACS

Answer 969

This can be achieved through: early diagnosis, pneumococcal immunisation, antibiotic prophylaxis with penicillin in children under 5 years of age, nutritional counselling, and prompt treatment when infections do occur. Counselling of patient and/or parents to avoid triggers (e.g., dehydration, cold and high altitudes, and strenuous exercise). Hydroxycarbamide (>2 years old) - (NB complication neutropenia) L-glutamine (>5yo) in sickle cell anaemia is unclear, but it is thought to decrease susceptibility of sickle erythrocytes to oxidative damage by raising the redox potential within these cells Blood transfusions BM transplantation ____________________ ``` Vaso-occlusive crisis Rx: Analgesia Antihistamine (opiate itchiness) Blood transfusion ABx ``` ____________________ ``` Acute chest syndrome Rx: Oxygen + incentive spirometry Analgesia Antihistamine BS-ABx Blood transfusion Hydration ```

Answer 970

``` Anaemia Opioid dependence Iron overload Liver complications Cholelithiasis Avascular necrosis of hip/shoulder Dactylitis Leg ulcers CV manifestations Priapism Splenic / pulmonary sequesteration Pulmonary HTN Renal abnormalities Growth/development delay Stroke Proliferative retinopathy Transient red cell aplasia Malaria ```

Answer 971

Chronic organ damage secondary to sickle cell disease results in many medical complications, although some prophylactic treatments can reduce the incidence of these. Without bone marrow transplantation (the only potentially curative treatment), median age at death is 42 years for men and 48 years for women in patients with sickle cell anaemia (SS), and 60 years for men and 68 years for women with haemoglobin SC disease.

Answer 972

Thalassemias are inherited blood disorders characterized by abnormal hemoglobin production. Often there is mild to severe anemia (low red blood cells). Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth may occur in children. There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Diagnosis may occur before birth through prenatal testing.

Answer 973

``` 280ml WW 440k severe disease It is most common among people of Italian, Greek, Middle Eastern, South Asian, and African descent M=F Confers malaria protection ```

Answer 974

Both α- and β-thalassemias are often inherited in an autosomal recessive manner. For the autosomal recessive forms of the disease, both parents must be carriers for a child to be affected. If both parents carry a hemoglobinopathy trait, the risk is 25% for each pregnancy for an affected child. The α-thalassemias involve the genes HBA1 and HBA2,inherited in a Mendelian recessive fashion. Two gene loci and so four alleles exist. It is also connected to the deletion of the 16p chromosome. α Thalassemias result in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. The excess β chains form unstable tetramers (called hemoglobin H or HbH of 4 beta chains), which have abnormal oxygen dissociation curves. Beta thalassemias are due to mutations in the HBB gene on chromosome 11, also inherited in an autosomal, recessive fashion. The severity of the disease depends on the nature of the mutation and on the presence of mutations in one or both alleles. Mutated alleles are called β+ when partial function is conserved (either the protein has a reduced function, or it functions normally but is produced in reduced quantity) or βo, when no functioning protein is produced. The situation of both alleles determines the clinical picture: β thalassemia major (Mediterranean anemia or Cooley anemia) is caused by a βo/βo genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia; β thalassemia intermedia is caused by a β+/βo or β+/β+ genotype. In this form, some hemoglobin A is produced; β thalassemia minor is caused by a β/βo or β/β+ genotype. Only one of the two β globin alleles contains a mutation, so β chain production is not terribly compromised and patients may be relatively asymptomatic.

Answer 975

Carrier / affected parents | Italian, Greek, Middle Eastern, South Asian, and African descent

Answer 976

``` Iron overload Infection (especially with splenectomy) Bone deformities Splenomegaly Reduced growth Heart problems: Diseases, such as congestive heart failure and abnormal heart rhythms, may be associated with severe thalassemia. ```

Answer 977

Thalassemia can be diagnosed via a complete blood count, hemoglobin electrophoresis, and DNA testing.

Answer 978

Genetic counselling Warn that traits may be misdiagnosed as ID anaemia Severe thalassaemia - regular blood transfusions Iron chelation therapy - deferoxamine, deferiprone, or deferasirox BM transplantation

Answer 979

The major causes of morbidity and mortality in thalassemia are anemia and iron overload. The severe anemia resulting from this disease, if untreated, can result in high-output cardiac failure; the intramedullary erythroid expansion may result in associated skeletal changes such as cortical bone thinning. The long-term increase in red-cell turnover causes hyperbilirubinemia and bilirubin-containing gallstones. Increased iron deposition resulting from lifelong transfusions and enhanced iron absorption results in secondary iron overload. This overload causes clinical problems similar to those observed with primary hemochromatosis (eg, endocrine dysfunction, liver dysfunction, cardiac dysfunction).

Answer 980

Rickets refers to changes caused by deficient mineralisation at the growth plate of long bones. Osteomalacia refers to impaired mineralisation of the bone matrix. Rickets and osteomalacia usually occur together while the growth plates are open. Osteomalacia can also occur after the growth plates have fused. Rickets can manifest in childhood at the distal forearm, knee, and costochondral joints, as these are sites of rapid bone growth, where large quantities of calcium and phosphorus are required for mineralisation. Characteristic features include widening of the bones at the wrists and knees, bowing of the legs, spine deformities, fractures, bone pain, and dental abnormalities. Rickets is deficient mineralisation at the growth plate of long bones, resulting in growth retardation. If the underlying condition is not treated, bone deformity occurs, typically causing bowed legs and thickening of the ends of long bones. Rickets only occurs in growing children before fusion of the epiphyses, and typically affects the wrists, knees, and costochondral junctions. Rickets occurs primarily as a result of a nutritional deficiency of vitamin D, but can be associated with nutritional deficiencies of calcium or phosphorus. Hypophosphataemic rickets is a common genetic cause of rickets. The mainstay of treatment is to correct vitamin D deficiency and to ensure adequate calcium intake. Vitamin D deficient rickets can be prevented in many cases by ensuring that children and pregnant women have sufficient vitamin D and calcium intake.

Answer 981

5 per 100k Majority are black or breat fed Peak incidence is 6-18months Globally, nutritional deficiencies are the leading cause of rickets, followed by vitamin D-dependent, vitamin D-resistant, and renal rickets. Surprisingly, in the sunniest areas of the world, rickets is still a major health problem. Reasons for this include burka-wearing practices, avoidance of exposure of any skin to sunlight, and foods unfortified with vitamin D. Darker-pigmented people also require more sun exposure than lighter-skinned people, to convert bioactive vitamin D.

Answer 982

Vitamin D metabolism is dependent on sunlight and enzymatic conversion in the liver and kidneys. Ultraviolet light converts 7-dehydrocholesterol to colecalciferol (vitamin D3). Colecalciferol may also be obtained from the diet. Colecalciferol is converted to calcidiol (25-hydroxyvitamin D) by vitamin D 25-hydroxylase in the liver. Calcidiol is converted to calcitriol (1,25-dihydroxyvitamin D) by 1-alpha-hydroxylase in the kidney. Ergocalciferol (vitamin D2) is obtained from the diet and is metabolised in a similar manner as colecalciferol. The main reasons for inadequate vitamin D supply in infants from Western countries are prolonged breastfeeding without vitamin D supplementation and concomitant avoidance of sun exposure. At latitudes above 40º north or south, no effective synthesis of colecalciferol occurs in winter months, so deficiency is more common. The recommended intake of vitamin D to prevent deficiency in normal infants and young children was 200 units/day. This has been updated to 600 units/day by the US Institute of Medicine. Human breast milk typically contains <25 units vitamin D per litre unless the mother receives vitamin D supplementation. Phosphate-deficient rickets is almost always caused by renal phosphate wasting. Fibroblast growth factor-23 (FGF-23) is a hormone secreted by osteoblasts, osteoclasts, and osteocytes that decreases phosphate reuptake in the kidney. Genetic hypophosphataemic rickets, oncogenic hypophosphataemic rickets, and rickets associated with McCune-Albright syndrome result from excessive blood levels of FGF-23. Hereditary hypophosphataemic rickets with hypercalcuria, Fanconi syndrome, and renal tubular acidosis type II are caused by mutations in ion transporter genes. Nutritional deficiency of phosphate is a rare cause of rickets. Phosphate is abundant in most diets but may not be sufficient in growing infants, or it may be precipitated in the stomach by antacids. Medications that can cause calcium and phosphorus deficiency include loop diuretics and corticosteroids, and phenytoin can cause target organ resistance to calcitriol.

Answer 983

``` STRONG 6-18m Dec sunlight exposure Breast feeding Calcium deficiency Phosphate deficiency FHx Antacids, loop diuretics, corticosteroids, anticonvulsants ``` WEAK Darker skin

Answer 984

``` Bone pain Growth retardation Delayed achievment of motor milestones Bony deformities Muscle weakness ``` ``` UNCOMMON Carpopedal spasm - hypocalcaemia/phosphataemia Numbness parasthesias - hypocalcaemia Tetany - hypocalcaemia Seizures - hypocalcaemia ```

Answer 985

X-ray - widening of the epiphyseal plate, loss of definition of the zone of provisional calcification at the epiphyseal/metaphyseal interface, cupping, splaying, and fraying of the metaphysis; Looser's zone (pseudofracture) Serum calcium - may be decreased in hypocalcaemic rickets; normal in hypophosphataemic rickets Serum phosphate - may be decreased in hypocalcaemic rickets; decreased in hypophosphataemic rickets Serum PTH - high with hypocalcaemic rickets and normal with hypophosphataemic rickets 25-hydroxyvitamin D levels (calcidiol) - low in vitamin D-deficient rickets ALP + LFTs - alkaline phosphatase is elevated in rickets Serum urea + creatinine - raised in rickets caused by kidney disease Urinary calcium and phosphorus - calcium is decreased and phosphorus is increased in hypocalcaemic rickets; calcium is normal and phosphorus is high in hypophosphataemic rickets

Answer 986

Symptomatic hypocalcaemia - hospitalise Vit D def rickets/calcium deficient: Calcium + ergocholecalciferol / cholecalciferol Pseudovitamin D deficient: (Occurs due to a defect in 1-alpha-hydroxylase, the enzyme that is responsible for the conversion of 25-hydroxyvitamin D into the active metabolite.) Calcitriol Replace phosphate via sodium phosphate in x-linked hypophosphataemic rickets, alongside calcitriol

Answer 987

Fractures Hungry bone syndrome - Worsening of hypocalcaemia after the start of vitamin D therapy for hypocalcaemic rickets may occur. Possible adverse effects of vitamin D therapy include hypercalciuria, hypercalcaemia, nephrocalcinosis, and intra-ocular calcifications. Calcium-deficiency rickets: vitamin D deficiency Most children with vitamin D-deficient rickets will respond well to vitamin D and calcium, although response rates are higher with intramuscular than with oral treatment. [4] Calcium-deficiency rickets: calcium deficiency Calcium supplementation leads to relief of bone pain within 1 month, with improved mobility. Wrist enlargement may resolve within 6 months, although knee deformity may not resolve spontaneously. [33] Calcium-deficiency rickets: pseudovitamin D deficiency A physiological dose of calcitriol generally promotes complete healing of the bone disease and resolution of the biochemical abnormalities. Calcium-deficiency rickets: vitamin D resistance Not all patients respond to oral treatment, but metabolic and bone abnormalities may improve with intravenous calcium. [34] Hypophosphataemic rickets: X-linked, autosomal dominant, autosomal recessive, McCune-Albright syndrome Many patients have impaired growth and bone healing despite treatment. Outcomes are better when treatment is started in early infancy, but skeletal development remains abnormal and early growth deficits may be permanent. [35] [36] Hereditary hypophosphataemic rickets with hypercalciuria Patients may respond to treatment. Spontaneous improvement in the renal phosphate-wasting defect has been reported in later life. [37] Hypophosphataemic rickets: tumour-induced Surgical removal of the tumour can cure rickets, but not all children have a complete response. [36] Management of deformity Untreated rickets can cause permanent bone deformity and lead to stunted growth. Surgical intervention may be necessary to repair severe bony abnormalities.

Answer 988

Obesity is a condition of excessive body fat or adiposity that exceeds healthy limits. The most widely accepted method to screen for excess adiposity is calculation of body mass index (BMI). Abnormal BMI cut-offs in children are determined by age- and sex-specific percentiles based on growth charts, as the amount of body fat changes with age and differs between boys and girls. Worldwide, the definition of overweight and obesity changes; however, a BMI >85th percentile is defined as overweight or at risk for overweight in the US and UK, a BMI ≥95th percentile is variably defined as obesity or overweight, and a BMI >99th percentile is defined as severe obesity. For children under 2 years of age, BMI percentiles are not available; thus, obesity may be defined as a weight ≥95th percentile for height.

Answer 989

Behavioural and environmental factors are primarily responsible for the dramatic increase in obesity in the past two decades, although genes play an important role in regulation of body weight. Calculating body mass index (BMI) is the most widely accepted method of screening for obesity in children. Abnormal BMI cut-offs in children are determined by age- and sex-specific percentiles. The dramatic increase in childhood obesity has led to a marked increase in the diagnosis of impaired glucose tolerance and type 2 diabetes mellitus in children. Preventing excessive weight gain in children is of paramount importance in confronting the obesity epidemic, as obesity is difficult to treat at all ages, and obese children tend to become obese adults. The mainstay of treatment is lifestyle modification to improve diet and increase physical activity. Pharmacotherapy and bariatric surgery may be considered as an adjunct to lifestyle modification in severely obese adolescents.

Answer 990

Obesity in children is multifactorial. Interactions among factors such as genetic predisposition, behavioural and cultural practices, and environmental influences lead to discordant energy balance, with energy intake exceeding energy expenditure, eventually leading to obesity in predisposed people. Many factors typically co-exist in a person, making it difficult to determine the impact of any one factor independently of the others on the development of obesity. Behavioural and environmental changes must play an important role even in genetically predisposed children, as the prevalence of obesity in children has increased dramatically over the last 30 years despite a low likelihood of a rapid change in the genetic makeup of the population.

Answer 991

``` STRONG Obese parents Rapid weight gain in infancy Weight gain in early childhood Black / hispanic ethnicity Poor socio-E Sedentary lifestyle ``` ``` WEAK IUGR Maternal GDM Poor dietary choices Screen time >2-3hrs/day Sleep deprivation ```

Answer 992

BMI >95th centile Increased waist-hip ratio Increased skin fold thickness Hypertension

Answer 993

Fasting blood glucose - screen DM 5.6-6.9 = impaired glucose tolerance Serum lipids - to screen for dysplipidaemia LFTs - N / elevated transaminases if NAFLD

Answer 994

BMI <95th centile = lifestyle modifications and intense exercise 95-99th centile 2-11 - lifestyle mods 12-18yo: orlistat / metformin SUPER LAST LINE RARELY DONE: Bariatric surgery is reserved for the most obese adolescents who have been involved in a behavioural treatment programme for ≥6 months. It should only be considered in children who have attained Tanner 4 or 5 pubertal development and final, or near final, height with BMI ≥40 with mild comorbidities, or BMI >35 with extreme comorbidities. Children must be able to adhere to healthy diet and activity to be eligible for surgery. The surgical approaches used most often are laparoscopic adjustable gastric banding, the Roux-en-Y gastric bypass, and vertical sleeve gastrectomy.

Answer 995

``` obesity in adults long term high  type 2 diabetes long term high  impaired glucose tolerance long term high  metabolic syndrome long term high  cardiovascular disease long term high  hypertension long term high  acanthosis nigricans long term high  hyperlipidaemia long term high  post-surgical complications long term high  polycystic ovary syndrome long term high  obstructive sleep apnoea long term medium  non-alcoholic fatty liver disease long term medium  psychosocial morbidities long term medium  cholelithiasis long term medium  intertrigo long term medium  furunculosis long term medium  obesity hypoventilation syndrome long term low  slipped capital femoral epiphysis long term low  Blount's disease long term low  asthma long term low  constipation variable medium  gastro-oesophageal reflux variable medium  pseudotumor cerebri ```

Answer 996

Treatment of obesity at any age is a challenge. Even with successful weight loss, children are at risk of rebounding back to or going above their previous weight. Family involvement in the weight loss regimen is imperative for successful weight loss. Obese children are at high risk of becoming obese adults, and obesity in adults is a serious health risk. Approximately 80% of children who are obese at 10 to 15 years of age will remain obese as adults.

Answer 997

The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) categorises depressive disorders in children into the following categories: major depressive disorder (MDD), persistent depressive disorder (dysthymia), disruptive mood dysregulation disorder, premenstrual dysphoric disorder, substance/medication-induced depressive disorder, depressive disorder due to another medical condition, other specified depressive disorder, and unspecified depressive disorder. This topic focuses on MDD and persistent depressive disorder (dysthymia). MDD in children is a more severe form of depressive disorder, and is characterised by at least 5 depressive symptoms, with 3 levels of severity: mild, moderate, and severe. Persistent depressive disorder is a more chronic form of depressive disorder, which is characterised by a chronic sad or irritable mood, lasting for at least 1 year, with 2 or more additional depressive symptoms. Characterised by sad or irritable mood, anhedonia, decreased capacity to have fun, decreased self-esteem, sleep disturbance, social withdrawal or impaired social relationships, and impaired school performance. One of the most common paediatric psychiatric disorders, especially among girls during adolescence. At-risk children should be screened for depression. It is crucial to make an accurate diagnosis, based on a comprehensive assessment and review of the history, with input from multiple sources. The safety of the child and others, and the duration and severity of depression, need to be evaluated carefully to help determine the appropriate level of care and treatment modality. Treatment is typically with active monitoring, specific psychotherapies, antidepressants, or a combination of these therapies. There is an increased risk for substance abuse, suicide attempts, and completed suicide. Suicidality needs to be assessed at each healthcare encounter. Following recovery, relapse or recurrence rate is high in the absence of continuation treatment.

Answer 998

prevalence = under 13 - 2.8% and among children between 13 and 18 years - 5.6%. M=F until adolescence when F>M

Answer 999

Childhood depression is likely to be caused by both genetic and environmental factors, and by their interactions. It is estimated that up to 40% of variance can be explained by genetic factors, and the remaining variances can be explained by environmental factors and by the interactions between genetic factors and the environment.

Answer 1000

``` STRONG Fix Other parental psychopathology Personal Hx Stress/trauma Female Sexual minority status Hx chronic illness Post natal status Neighbourhood and social instability Immunosuppressive medications (corticosteroids) Substance use/abuse ```

Answer 1001

``` Sad/irritable Dec interest / anhedonia Significant functional impairment No Hx manic/hypomanic episode No Hx recent bereavement Dec concentration Insomnia/hypersomnia Change of appetite/weight Fatigue Worthlessness/guilt Hopelessness Psychomotor agitation/retardation Somatic complaints Social withdrawal / change of friends ``` Suicidal ideation Increased substance abuse

Answer 1002

Clinical diagnosis ``` CONSIDER Checking TSH/T4 FBC Urine drug / pregnancy test B12/folate Vitamin D ```

Answer 1003

AT risk of harm to self or others = MHC assessment Mild: Psychotherapy Melatonin/dipenhydramine to help sleep SSRI: Fluoxetine = the choice Sertraline Citalopram Once remission is achieved, whether it is after the first medication or psychotherapy treatment or after multiple treatment trials, treatment is continued for 6 to 12 months to avoid relapse, at the same dose used for acute treatment. Recommendation is 6 months for first episode, 12 months for recurrent episode Following the period of continuation therapy, 1 to 2 years of maintenance treatment may be needed for children who are at risk of having recurrent depression (multiple episodes, chronic depression, comorbid disorders).

Answer 1004

Treatment induced mania/disinhibition/agitation Suicidal behaviour Aggression Substance abuse About 50% to 60% of young people respond to first psychotherapy or medication treatment. Between 40% and 50% of young people who do not respond to at least one medication trial respond when switching to a new antidepressant, or switching to a new antidepressant plus psychotherapy. Recurrence is high Up to 70% of young people have a recurrence of an episode within 5 years of remission.

Answer 1005

Depression in children

Answer 1006

Depression in children

Answer 1007

Depression in children

Answer 1008

With the revised and updated classification by the International League Against Epilepsy (ILAE) Commission on Classification and Terminology, generalised seizures are now understood to originate at some point within the brain and rapidly engage bilaterally distributed networks. This can include both cortical and subcortical structures and may not necessarily involve the entire cortex. Seizures may occur as a stand-alone event or they may recur, in which case the term 'epilepsy' is used. This topic addresses generalised epilepsies. Previous terminology of 'secondarily generalised' seizure (i.e., a focal-onset seizure that spread to involve the rest of the body) has now changed to 'focal to bilateral tonic-clonic seizure'. It is also recognised that if the onset of a seizure is unwitnessed or cannot be described, this would be an 'unknown onset tonic-clonic seizure'. Seizures may occur as a stand-alone event or may recur (epilepsy). Aetiology can be structural, genetic, infectious, metabolic, immune, or unknown. An attempt should be made to identify the type(s) of epilepsy and the epilepsy syndrome by recognising a pattern of seizure types, clinical features, and EEG characteristics. Detailed history is of paramount importance in the diagnosis, as key diagnostic factors lie in the history as opposed to ancillary investigations. Main treatment options will depend on the epilepsy syndrome and include anticonvulsants, a ketogenic diet, vagus nerve stimulation, and surgery as well as consideration of lifestyle factors.

Answer 1009

The average annual rate of new cases of epilepsy throughout the world is approximately 5 to 10 cases per 10,000 children and adolescents. It is estimated that 0.4% to 0.8% of all children will develop a type of epilepsy by 11 years of age. The incidence of epilepsy depends on age: it is highest in the first year of life, falls between 1 and 10 years of age (40 to 50 per 100,000 per year), and falls further in adolescence (20 per 100,000 per year).

Answer 1010

Generalised seizures may be genetic (previously referred to as 'idiopathic'), or may be due to an underlying metabolic or immune disease, or less commonly may occur in the presence of a structural abnormality of the brain (in which case there may also be focal seizures), or their aetiology may be unknown. The International League Against Epilepsy (ILAE) uses the following aetiological classification system. [1] Genetic Many epileptic syndromes with generalised seizures have a genetic component; this is usually not a specific inheritance pattern, but rather a complex inheritance often with age-dependent penetrance. [10] For some of these syndromes, linkage to specific chromosomes has been noted. [11] Although the exact molecular mechanisms of febrile seizures are yet to be understood, underlying mutations have been found in genes encoding the gamma-aminobutyric acid A receptor and the sodium channel (e.g., sodium channel, voltage-gated, type I, alpha subunit [SCN1A]). [12] The previous term of 'idiopathic generalised epilepsies', which referred to childhood absence epilepsy, juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy with generalised tonic-clonic seizures alone, has now been replaced with 'generalised genetic epilepsies'. When the generalised epilepsy cannot be classified as one of these four syndromes or evidence is lacking for a genetic basis, then the epilepsy can be classified as having an unknown basis. Structural/metabolic The previous term 'symptomatic generalised epilepsy', often used to refer to epilepsy with rapid bilateral network involvement due to an underlying cause, is now replaced by the term '(developmental) epileptic encephalopathy', which can consist of generalised, focal, or a combination of both types of seizures. Generalised seizures in such a context can be due to a known or suspected disorder of the central nervous system (CNS), can occur in certain metabolism and neurodegenerative disorders (epilepsy is then part of a generalised encephalopathy), or may be due to infection or post-infective causes, post-traumatic causes, abnormalities of brain development, chromosomal syndromes, birth asphyxia, malignancy, neurocutaneous syndromes, or autism spectrum disorder. An example is Ohtahara syndrome, which is often caused by various brain malformations. It has also been described in association with some metabolic disorders; however, in a minority of cases the cause is not found. Similarly, the aetiology of epileptic spasms and Lennox-Gastaut syndrome is heterogeneous; in a number of cases an underlying structural abnormality of the brain is found. Immune Seizures result directly from an immune disorder in which seizures are the core symptom of the disorder. An immune aetiology should be suspected when there is evidence of autoimmune-mediated CNS inflammation. Examples include anti-NMDA (N-methyl-D-aspartate) receptor encephalitis and anti-LGI1 encephalitis. Infectious Seizures result directly from a known infection in which seizures are the core symptom of the disorder. The most common aetiology worldwide is where epilepsy occurs as a result of an infection. An infectious aetiology refers to a patient with epilepsy, rather than with seizures occurring in the setting of acute infection such as meningitis or encephalitis. Examples include neurocysticercosis, tuberculosis, HIV, cerebral malaria, subacute sclerosing panencephalitis, cerebral toxoplasmosis, and congenital infections such as Zika virus and cytomegalovirus. Unknown These are seizures where the cause is not known; no assumption should be made about their aetiology.

Answer 1011

``` STRONG Genetic predisposition or Hx Perinatal asyphyxia Metabolic/neurodegenerative disorders Head trauma Structural CNS abnormalities ``` ``` WEAK Autism CNS infection Neurocutaneous syndromes Hx of febrile seizures ```

Answer 1012

Staring spells/inattention Tonic-clonic Brief arrhythmic muscular jerking movements Eyes rolling into back of head Intercurrent illness Unexplained falls Incontinence Tongue biting Post ictal phenomena - some patients may experience post-ictal phenomena such as sleepiness, headaches, amnesia, or confusion. Precipitated by fatigue/lack of sleep/light/noise Developmental delay Neurocutaneous stigmata: Tuberous sclerosis: depigmented macules, shagreen patches, periungual fibromas, adenoma sebaceum, and ash-leaf macules. Neurofibromatosis type 1: cafe au lait spots, axillary and inguinal freckling, and plexiform neurofibromas. Sturge-Weber syndrome: port-wine coloured haemangiomas on the face or trunk.

Answer 1013

EEG - Standard diagnostic test. Measurement of electrical activity in the brain recorded from electrodes placed on scalp. Typically run for 20 minutes. - abnormal rhythms specific to epilepsy syndrome BG - obligatory part of evaluation of any child with decreased consciousness level. Metabolic panel - N FBC - may be raised WCC if preceding illness ECG - N Consider MRI/CT head - no underlying pathology in idiopathic generalised seizures; may reveal cause in patients with symptomatic epilepsy

Answer 1014

ONGOING SEIZURE: If seizure lasts more than 5 minutes, or separate seizures happen in clusters, pharmacological intervention should be considered. First-line options include rectal diazepam or buccal/intranasal midazolam. Phenytoin possible. Anticonvulsants: Sodium valproate Ethosuximide Lamotrigine

Answer 1015

``` Worsening seizures Developmental delay Status epilepticus Sudden death in epilepsy Evolution into other epilepsy syndromes Psychopathology Cardiovascular disease ```

Answer 1016

There is a good prognosis in 70% to 80% of children with idiopathic epilepsy and late onset of seizures, and in those without neurological dysfunction. Rapid response to therapy is an important predictor of lasting remission. Immediate treatment does not reduce the risk of death in patients with a first unprovoked tonic-clonic seizure, but death risk is higher (by 6% at 10 years and 10% at 20 years) in those who have not entered 5-year remission.

Answer 1017

Generalised seizures

Answer 1018

Generalised seizures

Answer 1019

Generalised seizures

Answer 1020

Migraine is defined by the International Headache Society (IHS) as a recurrent headache that occurs with or without aura and lasts for 2 to 48 hours. It is usually unilateral in nature, of gradual onset (15 to 30 minutes), pulsating in quality, of moderate or severe intensity, and is aggravated by routine physical activity. Nausea, vomiting, photophobia, and phonophobia are common accompanying symptoms. Migraine has a high prevalence in children (10%) and is a significant source of morbidity. Careful consideration of the broad differential diagnosis is important when evaluating a child with headache. The expectations for the success of treatment should take account of the level to which psychological factors are contributing to symptoms. Not all treatments (acute or prophylactic) work for every patient. Spontaneous remission with increasing age may occur in 25% to 50% of children.

Answer 1021

Studies in developed countries suggest that migraine is the most common diagnosis among children presenting with headache to a medical practitioner. The mean age at onset is 7.2 years for boys and 10.9 years for girls, with 20% of children experiencing their first attack before the age of 5 years. It occurs in equal proportions of boys and girls before puberty, but becomes predominantly female (3:1) thereafter. 1 per 20 children

Answer 1022

Central neuronal hyperexcitability underlies susceptibility to and development of migraine episodes. The broad evidence base for this suggests a multi-factorial causation, with amino acids, magnesium depletion, calcium channels, and controlling genes all being implicated.

Answer 1023

``` STRONG FHx migraine Chocolate cheese and citrus fruits Stress Hormonal changes ``` ``` WEAK Alcohol and caffeine Volume depletion Analgesic overuse Sleep disturbance Bright/flickering lights Periodic syndromes ```

Answer 1024

Gradual onset (typically 15mins) Normal physical examination Aura N+V Visual disturbance - diplopia, blurred vision, and photophobia may be associated symptoms. Phonophobia Occipital headache, ataxia, diplopia, blurred vision, vertigo, and tinnitus Unilateral motor/sensory signs - hemiplegic migraine Ptosis - dilated pupils Generalised seizure

Answer 1025

Clinical CONSIDER CT/MRI ONLY IF: The presence of hypertension, bradycardia, altered consciousness level, or any focal neurological deficit suggests a more serious injury or alternative diagnosis and is an indication for urgent central nervous system (CNS) imaging.

Answer 1026

Acute episode: 1. Analgesia - paracetamol, ibuprofen, codeine phosphate Antiemetic - cyclizine 2. Sumatriptan nasal Rizatriptan Prophylaxis, consult neurologist: 1. Propranolol 2. Pizotifen 3. Topiramate 4. . Amitripyline/gabapentin/carbemazepine 5. Verapamil / indometacin

Answer 1027

Neg effect of schooling There are no reliable data regarding the prognosis of paediatric migraine diagnosed by International Headache Society (IHS) criteria. Spontaneous remission after puberty may occur, and migraine headaches may cease before the age of 25 years in 23% of people, although by the age of 50 years >50% of people remain affected. This study pre-dated the IHS diagnostic criteria. There is also evidence that migraine that develops during adolescence tends to continue in adult life, although attacks tend to be less frequent and severe in later life.

Answer 1028

Tics are brief, sudden, repetitive movements and/or sounds. They are divided into motor tics (e.g., blinking, shrugging shoulders, grimacing, or jerking) or phonic tics (e.g., throat clearing, sniffing, grunting, or more complex utterances). Patients describe an inner urge or a local premonitory sensation, which is then relieved by performing the tic. The tic can be voluntarily suppressed for short periods of time. Tics increase with stress, anxiety, and excitement, and decrease with distraction. Tic disorders may be primary (idiopathic or inherited) or secondary to certain conditions (e.g., head trauma, encephalitis). Brief, sudden, repetitive movements and/or sounds that increase with stress, anxiety, or excitement. Occur most commonly in children and adolescents, with boys more frequently affected than girls. The exact pathophysiological mechanisms are unknown, but the disorders are likely to be due to disturbances of the cortico-striatal-thalamo-circuitry. Comorbid conditions such as anxiety, obsessive-compulsive disorder, and ADHD are common. Tics are often intermittent and mild in children and may not require treatment. Treatment is indicated only for those patients whose tics are interfering with activities of daily living or social interactions, or who experience significant tic-related physical pain.

Answer 1029

Children > adults Male > Female Increased frequency in special education populations Provisional tic disorders (lasting <1 year) appear to be very common in childhood and have been estimated to occur in up to 20% of primary school children. Population-based surveys indicate that the prevalence of chronic tic disorders is 1% to 3%. Tourette's syndrome (multiple motor and at least one phonic tic for >1 year) has a population-based prevalence in children of 0.3% to 0.9%, 3:1 M:F, onset 6-7yo

Answer 1030

Primary tics 'Transient tics'/ Provisional motor or phonic tics (<1 year) Persistent (chronic) motor or phonic tics (>1 year) Tourette's syndrome (idiopathic or inherited) Tic disorder without an identifiable cause (e.g., with tic onset in a person over age 18 years). Secondary tics can be due to: Infections (e.g., encephalitis, Creutzfeldt-Jakob disease, and Sydenham's chorea). There is conflicting evidence concerning an association between tics and recurrent group A streptococcal infections. Substance abuse (stimulant abuse being the most common) Medicine (e.g., lamotrigine) [18] Toxins (e.g., carbon monoxide) Head trauma Stroke Metabolic and endocrine (chorea gravidarum, thyrotoxicosis) Neurodegenerative (Huntington’s disease, Wilson’s disease).

Answer 1031

``` STRONG Age at onset <18 Male FHx FHx OCD/ADHD/Depression Antenatal maternal smoking Hx OCD / ADHD ``` WEAK Autism spectrum disorder

Answer 1032

``` RFs Observed tics Premonitory sensation Ability to suppress tics Symptoms improve when distracted Otherwise normal near exam Variable severity over time Worse with stress/anxiety/excitement ```

Answer 1033

Clinical - investigations are only required in the setting of abnormal neurological examination CONSIDER MRI - Indicated in patients with an abrupt onset of tics associated with other neurological symptoms, unusual patterns of tics (unilateral or associated with dystonia), onset in adulthood, or an abnormal neurological examination suggestive of secondary causes of tics. EEG - Indicated only if the history does not help to differentiate between seizures and tics.

Answer 1034

Patients and their parents should be reassured about the benign nature of tics. They should also be aware of the tendency for tics to increase in times of stress, anxiety, and excitement. The family and the school should try not to focus on the presence of the tics. A child with a tic disorder should not be punished for carrying out their tics. Interference with daily life: CBT Habit reversal therapy HRT Medication: clonidine topiramate Atyptical neuroleptics [dopamine antagonists]: Aripiprazole Olanzapine Respiradone

Answer 1035

``` Behavioural problems Musculoskeletal problems Neuroleptic induced: akathisia dystonic reactions Tardive dyskinesias Parkinsonisms Neuroleptic malignant syndrom ```

Answer 1036

tic disorders

Answer 1037

tic disorders

Answer 1038

tic disorders

Answer 1039

Infantile spasms are the characteristic seizure type of West's syndrome (infantile spasms, developmental plateau, and hypsarrhythmia). Age of onset is typically from 1 month to 1 year with a median age of 3 to 5 months. The seizures are characterised by an initial contraction phase followed by a more sustained tonic phase. The contractions may be flexor, extensor, or mixed flexor-extensor, with sudden, usually bilateral, symmetrical contractions of the neck, trunk, and limbs. There may be an associated brief loss of consciousness. The seizures may be subtle, consisting of brief head nods, or be precipitated by sleep onset and offset or by feeding, leading to diagnostic confusion with gastro-oesophageal reflux. They typically occur in clusters or runs of 20 to 100 spasms at a time, with visible distress. Aetiology is heterogeneous and, in a significant proportion, remains unidentified. A hypsarrhythmic electroencephalogram pattern is characteristic, although not universally present. Onset of infantile spasms is often followed by plateauing or regression of subsequent development. West's syndrome is thus the archetypal infantile epileptic encephalopathy. It is considered that rapid identification and treatment of the spasms improves prognosis.

Answer 1040

1-2 per 4000 births incidence | M>F slightly

Answer 1041

More than half of those with infantile spasms have an identifiable underlying disorder such as periventricular leukomalacia, hypoxic-ischaemic encephalopathy, neuronal migration disorders, metabolic defects, and genetic syndromes such as Down syndrome. Many children who would previously have been classified as idiopathic or cryptogenic are now being diagnosed with variants in genes associated with early infantile epileptic encephalopathy (EIEE). Over 65 EIEE genes have now been identified. One third of children with tuberous sclerosis will suffer infantile spasms, and these children comprise 10% of those with infantile spasms

Answer 1042

STRONG Brain malformation Neurocutaneous syndrome (tuberous sclerosis) Antenatal/perinatal vascular event Intrauterine / perinatal infection (include herpes simplex, cytomegalovirus, toxoplasmosis, and HIV) Inherited metabolic disorder Genetic disorders (downs) ``` WEAK FHx Neonatal sinovenous thrombosis Postnatal brain injury Brain tumours (astrocytoma and ganglioglioma) ```

Answer 1043

COMMON RFs Spasms - Usually symmetrical, bilateral, brief contractions of the axial muscle groups and may involve the flexors, extensors, or both. They usually occur in clusters and are often seen on waking or falling asleep. Isolated spasms can occur. Spasms can be asymmetrical and may manifest only as head drops or abnormal eye movements. Occasionally spasms are associated with feeding. ``` Head nodding Neurodevelopmental delay / regression Ash leaf macules (Sx of tub sclerosis) Onset 3-12m Abnormal eye movements Abnormal tone ```

Answer 1044

EEG - hypsarrhythmia or modified hypsarrhythmia Plasma glucose - rule out hypo ``` To rule out other causes check: Calcium Magnesium LFTs - Elevated creatine kinase, aspartate aminotransferase, alanine aminotransferase, total bilirubin, alkaline phosphatase in CMV/toxoplasmosis RFTs Blood/urine cultures FBC - N ```

Answer 1045

Prednisolone (1st line) Tetracosactide (synthetic ACTH) Cortiocotrophin Vigabatran Refractory to all above: Try Pyridoxine Still refractory: Try Clonazepam/nitrazepam Or ketogenic diet

Answer 1046

Lennox-Gastaut syndrome (an epilepsy syndrome) Other epilepsy syndromes Developmetnal delay Reduced life expectancy Adverse prognostic indicators include: Age at onset under 3 months Presence of pre-existing neurological impairment or developmental delay Co-occurrence of other seizure types Lack of response to adrenocorticotropic (ACTH) therapy. Predictors of a favourable outcome are: [65] No apparent aetiology Age at onset at least 4 months Absence of atypical spasms and focal seizures Absence of asymmetrical electroencephalogram abnormalities Prompt treatment and an early and sustained response to treatment Normal psychomotor development before the onset of spasms.

Answer 1047

infantile spasm

Answer 1048

infantile spasm

Answer 1049

Intraventricular haemorrhage is a haemorrhage that occurs into the ventricular system of the brain. It is relatively rare in adult surgical practice and when it does occur, it is typically associated with severe head injuries. In premature neonates it may occur spontaneously. The blood may clot and occlude CSF flow, hydrocephalus may result. In neonatal practice the vast majority of IVH occur in the first 72 hours after birth, the aetiology is not well understood and it is suggested to occur as a result of birth trauma combined with cellular hypoxia, together the with the delicate neonatal CNS.

Answer 1050

In neonatal practice the vast majority of IVH occur in the first 72 hours after birth, the aetiology is not well understood and it is suggested to occur as a result of birth trauma combined with cellular hypoxia, together the with the delicate neonatal CNS.

Answer 1051

Is largely supportive, therapies such as intraventricular thrombolysis and prophylactic CSF drainage have been trialled and not demonstrated to show benefit. Hydrocephalus and rising ICP is an indication for shunting.

Answer 1052

``` Complications of GM/IVH include the following: Obstructive hydrocephalus Nonobstructive hydrocephalus Posthemorrhagic hydrocephalus Developmental impairment Cerebral palsy Seizures ``` GM/IVH remains a significant cause of both morbidity and mortality in infants who are born prematurely. Sequelae of GM/IVH include short- and long-term complications and can result in life-long neurologic deficits, specifically cerebral palsy, developmental delay, and seizures. GM/IVH is diagnosed primarily through the use of brain imaging studies, usually cranial ultrasonography, as shown below. Because GM/IVH can occur without clinical signs, screening and serial examinations are necessary for the diagnosis.

Answer 1053

In the majority of patients, GM/IVH is asymptomatic and diagnosed by surveillance ultrasonography. The presentation of GM/IVH widely varies. Most infants are asymptomatic or demonstrate subtle signs that are easily overlooked. GM/IVH is then subsequently found on surveillance sonography. One subgroup of infants with GM/IVH presents with the following: A sudden unexplained drop in hematocrit levels Possible physical findings related to anemia (eg, pallor, poor perfusion) or hemorrhagic shock Another subgroup of infants with GM/IVH presents with extreme signs, including the following: A sudden and significant clinical deterioration associated with anemia, metabolic acidosis, glucose instability, respiratory acidosis, apnea, hypotonia, and stupor is present. Physical findings related to these signs include poor perfusion, pallor or an ashen color, irregularities of respiratory pattern, signs of respiratory distress including retractions and tachypnea, hypotonia, and altered mental status (eg, decreased responsiveness, coma). Additional neurologic signs, such as fullness of the fontanelles, seizures, and posturing, may also be observed. Progression can be rapid and may result in shock and death. Between the two extremes of presentation, infants may demonstrate varying degrees of neurologic and systemic signs. Those with symptoms are more likely to have a more serious grade of GM/IVH.

Answer 1054

Muscular dystrophies are progressive, generalised diseases of muscle, most often caused by defective or specifically absent glycoproteins (e.g., dystrophin) in the muscle membrane. All muscular dystrophies are characterised by ongoing degeneration and re-generation of muscle fibres. The most common and rapidly progressive muscular dystrophy is Duchenne muscular dystrophy (DMD). This is X-linked and diagnosed by the finding of absent dystrophin on muscle biopsy. Other X-linked muscular dystrophies include Becker muscular dystrophy (BMD), which is characterised by diminished quantity or quality of dystrophin in muscle biopsy specimens. BMD is a milder form of DMD. Diagnosis can be confirmed using multiplex ligation-dependent probe amplification or full sequencing of the dystrophin gene. This topic will mainly discuss DMD. Duchenne muscular dystrophy (DMD) is highlighted as the most common and most rapidly progressive muscular dystrophy, with most patients losing the ability to walk by 12 years of age and requiring ventilatory support by 25 years of age. Before the use of cardioprotective drugs and respiratory muscle aids, respiratory complications were responsible for 80% of deaths and cardiac complications were responsible for approximately 20%. Survival past 30 years of age is no longer rare, with 10% to 40% of patients with DMD surviving to age 40 in centres that use non-invasive means of respiratory support. The development of acute respiratory failure, previously considered inevitable, can be preventable for most patients. Severe scoliosis and the need for corrective surgery can be avoided, and the need for mechanical ventilation delayed, by early and aggressive use of corticosteroids. With a few exceptions, all generalised muscle disease can be managed using the principles for managing DMD.

Answer 1055

DMD 1 per 3500 BMB 1 per 25000 Two-thirds of cases of DMD are inherited from a mother carrying a genetic mutation on the X chromosome at the Xp21 position. One third of cases result from spontaneous mutations. Girls or women with DMD are rare. Less-frequent muscular dystrophies include myotonic dystrophy, which has a prevalence rate of 93.1 per million and incidence of about 1 per 30,000 inhabitants of northern Italy.

Answer 1056

Duchenne/Becker muscular dystrophies are caused by a mutation of the dystrophin gene located on the small arm (p) of the X chromosome at the Xp21 position. The dystrophin gene, the largest in the human genome with 79 exons, has the highest spontaneous mutation rate. Spontaneous mutation results in one third of DMD cases, whereas maternal-fetal transmission results in the remaining two-thirds. Myotonic dystrophy is caused by a defective gene located on chromosome 19, in which a triplet repeat sequence of DNA is abnormally expanded many times. A second form of myotonic dystrophy exists with a gene defect on chromosome 3q. Clinical severity increases as the number of nucleotide triplet repeats exceeds 40 and potentially reaches into the thousands.

Answer 1057

FHx | Male

Answer 1058

Imbalance of lower limb strength Lower extremity musculotendinous contractors - Because the hip extensors are weaker than the hip flexors, the patient must keep the centre of gravity behind the hip to avoid jack-knifing. Likewise, jack-knifing occurs at the knees if the centre of gravity is behind the knees, because the knee extensors are weaker than the hamstrings. Thus, the patient tends to walk with increased lordosis and on the toes to keep the centre of gravity behind the hips and in front of the knees. ``` Delayed motor milestones Calf hypertrophy Ambulation difficulties Diminished muscle tone + reflexes Normal sensation ``` OTHER COMMON ``` Gowers sign Toe walking Hypotonia Hyperactivity Urinary / bowel incontinence Mental retardation ```

Answer 1059

Serum CK - 50-100x the normal level is consistent with DMD Genetic testing - Xp21 mutation may be present in DMD and Becker muscular dystrophy CONSIDER EMG - myopathic reading with fast firing, short duration but polyphasic and decreased amplitude motor units with early recruitment in the affected muscles Muscle biopsy - absence of dystrophin with Duchenne muscular dystrophy; diminished quantity or quality of dystrophin with Becker muscular dystrophy; other specific defective or absent glycoproteins in the membrane of the muscle wall with other muscular dystrophies

Answer 1060

Ambulatory: Prednisolone Physiotherapy, exercise and psychological support Surgery for contractures LV-ejection fraction <50% Give carvedilol / lisinopril May need surgery for scoliosis Will eventually need ventilation - expiratory and inspiratory assistance Maintenance of optimal nutrition - 15-20% will lose ability to swallow and may need PEG feed

Answer 1061

Survival past 30 years of age is no longer rare, with 10% to 40% of patients with DMD surviving to age 40 in centres that use non-invasive ventilatory support.

Answer 1062

``` Resp failure Loss of mobility Osteoporosis from glucocorticoid therapy WL/malnutrition Sexual dysfunction Cardiac failure Hypersomnolence and morning headaches ```

Answer 1063

muscular dystrophy

Answer 1064

muscular dystrophy

Answer 1065

Tuberous sclerosis complex (TSC) is an autosomal-dominant, neurocutaneous, multi-system disorder characterised by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas. The disease has 2 genetic loci: TSC1, found on chromosome 9q34; and TSC2, found on chromosome 16p13. The clinical phenotype can result from a mutation in either of these genes. An autosomal-dominant, neurocutaneous, multi-system disorder characterised by cellular hyperplasia, tissue dysplasia, and multiple organ hamartomas. The primary recognised neurocutaneous features include dental pits, hypopigmented macules (ash leaf spots), facial angiofibromas, and ungual fibromas. The most often identified clinical presentations are epilepsy (infantile spasms), autism and cognitive impairment, and neonatal cardiac rhabdomyomas. Cardiac rhabdomyomas regress in early childhood and are generally asymptomatic, whereas renal angiomyolipomas and giant cell astrocytomas progress in adolescence and adulthood. The renal complications are second only to the central nervous system complications as a cause of significant morbidity. Lymphangioleiomyomatosis of the lung associated with tuberous sclerosis is unique in that it is identified in females only and arises from metastases from renal angiomyolipomas.

Answer 1066

TSC can be identified in all ethnic groups and is equally identified in both sexes. Population studies have estimated a prevalence of 1 in 6000 to 9000 people. Although TSC is an autosomal-dominant inherited disorder, up to 65% to 75% of people affected with TSC have had spontaneous mutations as the underlying genetic cause. An estimated 40,000 Americans and at least 2 million people worldwide are affected with TSC.

Answer 1067

There are 2 recognised genetic loci that produce TSC: the TSC1 gene, found on chromosome 9q34; and the TSC2 gene, found on 16p13. The majority of affected patients have mutations on the TSC2 gene (80% to 90%); however, each genetic locus may produce the same phenotypic expression with individual variation.

Answer 1068

Genetic predisposition: 35% to 40% of affected people have autosomal-dominant inheritance. However, the majority (60% to 65%) of affected people have sporadic occurrence.

Answer 1069

``` COMMON FHx Epilepsy Cardiac rhabdomyoma (identified at 22 weeks of gestation) Renal angiomyolipomas Lymphangioleiomyomatosis of the lung Cerebral subependymal calcified nodules Giant cell atrocytomas Facial angiofibromas Cephalic plaques Periungal fibromas Hypomelanotic patches (ash leaf spots) Shagreen patch Numerous dental enamel pits and gingival fibromas ``` ``` OTHER Autism Cognitive impairment Behavioural problems Retinal nodular Hamartomas Multiple hamartomatous colonic polyps ```

Answer 1070

Usually clinical Genetic testing - mutation of TSC1 or TSC2 gene Neurodevelopmental testing Echocardiography - rhabdomyomas Renal USS/CT - angiomyolipomas Chest CT - lymphangioleiomyomatosis Cranial CT/MRI - calcified subependymal nodules, tubers, subependymal giant cell astrocytoma, cortical dysplasia, migration lines

Answer 1071

Specific management for each lesion

Answer 1072

``` Chronic renal/resp failure Sleep disturbances Sudden death IC haemorrhage Anxiety/depression ```

Answer 1073

TSC is a genetically and clinically heterogeneous disorder. Each patient will face specific and individual challenges related to the effects that the disease places upon them.

Answer 1074

Tuberous sclerosis complex

Answer 1075

Tuberous sclerosis complex

Answer 1076

Tuberous sclerosis complex

Answer 1077

Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. The tumors are generally non-cancerous. The cause is a genetic mutation in certain genes. These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development. The tumors involve supporting cells in the nervous system rather than the neurons. In NF1 the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. Diagnosis is typically based on the signs and symptoms and occasionally supported by genetic testing.

Answer 1078

NF1 - 1 in 3500 NF2 - 1 in 25000 NF1 normal life expectancy NF2 increased risk early death

Answer 1079

Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. If one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity of the condition of the parent does not affect the child; the affected child may have mild NF1 even though inherited from a parent with a severe form of the disorder

Answer 1080

50% chance of being affected with affected parent (Autosomal dominant)

Answer 1081

In NF1 the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. NF1: Six or more light brown dermatological spots ("café au lait spots") At least two neurofibromas At least two growths on the eye's iris (litchi noduels) Abnormal growth of the spine (scoliosis) In NF2 there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. Neurofibromatosis type I, in which the nerve tissue grows tumors (neurofibromas) that may be benign, may cause serious damage by compressing nerves and other tissues.[8] Neurofibromatosis type II, in which bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma) develop, often leading to hearing loss.[9] Schwannomatosis, in which painful schwannomas develop on spinal and peripheral nerves.[10]

Answer 1082

``` Radiograph MRI or CT scan EEG Slit-lamp examination Genetic testing Histology ```

Answer 1083

Surgical removal of tumors is an option, however the risks involved should be assessed first. With regard to OPG (optic pathway gliomas), the preferred treatment is chemotherapy. However, radiotherapy isn't recommended in children who present with this disorder. It is recommended that children diagnosed with NF1 at an early age have an examination each year, which allows any potential growths or changes related to the disorder to be monitored

Answer 1084

In most cases, symptoms of NF1 are mild, and individuals live normal and productive lives. In some cases, however, NF1 can be severely debilitating and may cause cosmetic and psychological issues. The course of NF2 varies greatly among individuals. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brain stem, can be life-threatening. Most individuals with schwannomatosis have significant pain. In some extreme cases the pain will be severe and disabling.

Answer 1085

Mumps is an acute systemic infectious disease caused by an RNA paramyxovirus. It is spread by respiratory droplets, and, before the advent of the mumps vaccine, it affected school-aged children commonly. Classically, mumps causes swelling of the parotid glands; the involvement of other salivary glands, meninges, gonads, and pancreas is also common. Hallmark of infection is swelling and inflammation of one or both of the parotid glands (parotitis). More serious complications of mumps, such as meningitis, encephalitis, and orchitis, can occur in the absence of parotitis, potentially delaying the accurate diagnosis of the disease. Diagnosis can usually be made based on the characteristic clinical features of parotitis and prodrome alone. Laboratory diagnosis is based on serological or salivary confirmation, detection of viral nucleic acid, or isolation of the virus from body fluids. Treatment is symptomatic, and the disease can be prevented largely by routine vaccination. The mumps vaccine is used almost universally in developed countries, as part of MMR (measles, mumps, and rubella) vaccine. Sporadic outbreaks have occurred in highly vaccinated populations, leading to suggestions that the vaccine’s efficacy may not be as high as originally thought and that vaccination policy should be reviewed, perhaps to include 3 doses.

Answer 1086

In countries without vaccination against mumps virus, the incidence remains high, with epidemic peaks every 2 to 5 years In the UK, the cases that do occur are generally in the older, unvaccinated population. In England in 2017, 1550 cases of mumps were reported and over 70% of these were in people over 15 years of age There is no difference in the prevalence of mumps between men and women. However, men are more likely to have complications, particularly neurological.

Answer 1087

Spread is by respiratory droplets, direct contact, or contaminated fomites. The incubation period is usually 14 to 18 days, and peak contagion occurs 1 to 2 days before the onset of symptoms. Viral shedding has been isolated in saliva as early as 7 days before and until 9 days after clinical symptoms. Vaccination status does not seem to impact the duration of viral shedding. The mumps virus is a single-stranded RNA virus and a member of the Paramyxovirus genus. It is an enveloped virus composed of a matrix protein and 2 surface glycoproteins. The glycoproteins, known as haemagglutinin-neuraminidase and fusion protein, enable viral absorption and fusion of the virion membrane with the host cell membrane, respectively. The envelope is composed of a lipid bilayer membrane, which makes the virus susceptible to ether and alcoholic disinfectants. Twelve mumps virus genotypes have been described, designated A to L. Their prevalence varies by geographic location. Humans serve as the only natural host for mumps.

Answer 1088

STRONG Unvaccinated - One dose of the live attenuated mumps vaccine protects against mumps infection in 96% of people, but immunity wanes with time. International traveller ``` WEAK Immunosuppression Healthcare worker Close contact living Vaccine failure ```

Answer 1089

COMMON RFs Parotitis Hx missed / no vaccination ``` OTHER COMMON Constitutional symptoms Epididymo-orchitis Oophoritis Aseptic meningitis ``` UNCOMMON Mastitis Encephalitis Deafness

Answer 1090

1st: Salivary mumps IgM Consider: FBC + Dif - possible leukocytosis in mumps meningitis, orchitis, or pancreatitis LP - CSF cell count: lymphocytosis in mumps meningitis and encephalitis; possible pleocytosis; CSF pressure, glucose, protein: generally normal Serum mumps IgG/IgM Reverse transcriptase PCR Serum amylase if also pancreatitis Viral culture of CSF, saliva, urine CT head - normal in uncomplicated disease, but focal lesions may be present; excludes other pathology

Answer 1091

Isolation and supportive care Ibuprofen + paracetamol (antipyretics/analgesia) Public Health England also recommends exclusion from school or work for 5 days.

Answer 1092

Mumps is a self-limiting disease that often resolves within 1 to 2 weeks. Most people recover from mumps without any long-term residual complications. One attack of mumps usually confers life-long immunity. Pregnancy Mumps in pregnancy has not been shown to cause an increased risk of severe congenital abnormalities or low birth weight. A study in the 1960s showed increased risk of miscarriage with mumps infection during the first trimester, whereas a more recent study had no increased rate of miscarriage.

Answer 1093

``` Epididymo-orchitis Aseptic meningitis Oophoritis Mumps encephalitis Pancreatitis Myocardial involvement Arthritis Deafness ```

Answer 1094

Measles is a highly infectious disease caused by measles virus, characterised by a maculopapular rash, cough, coryza, conjunctivitis, and a pathognomonic enanthem (Koplik's spots) with an incubation period of about 10 days. Preventable by immunisation but high levels of coverage are required to prevent outbreaks of disease from occurring. No specific treatment for measles is available except for supportive care. Complications of measles are more common in immunocompromised and poorly nourished individuals and include pneumonia, laryngotracheitis, otitis media, and encephalitis.

Answer 1095

In the pre-vaccine era, measles was ubiquitous. In the UK, there were 160,000 to 800,000 cases reported every year, with peaks every 2 years. 5-9yos Measles vaccine was introduced in the 1960s, leading to a more than 99% reduction in the number of reported measles cases. Two doses of the measles vaccine are recommended to ensure immunity.

Answer 1096

Measles is caused by a spherical RNA virus of the genus Morbillivirus and family Paramyxoviridae. It is relatively large, with an RNA genome. Measles virus is heat labile. Humans are the natural host but monkeys can become infected. Laboratory strains can infect mice and hamsters. Measles virus is transmitted via droplets and infects epithelial cells of the nose and conjunctivae.

Answer 1097

STRONG Exposure No prior immunisation Failed vaccine response Mathematical modelling suggests that immunisation rates of 92% to 95% are required to interrupt measles transmission. After 2 doses of vaccine about 99% will be protected.

Answer 1098

COMMON Exposure Un-immunised ``` PRODROME Fever Cough Coryza Conjunctivitis ``` THEN Macropapular rash + resolution of fever

Answer 1099

1st Measles specific IgM and IgG ELISA Consider Acute + convalescent sera for measles specific IgG and IgM Measles RNA detection via PCR Fluorescent antibody detection

Answer 1100

Supportive Paracetamol/ibuprof Respiratory support in the event of pneumonia and neurological support in the event of encephalitis should be given. Vitamin A supplementation: Consider vitamin A in children who: are up to 2 years of age; are hospitalised with measles; have complications of measles; have immunodeficiency; have clinical evidence of vitamin A deficiency; have impaired intestinal absorption and malnutrition; or have recently emigrated from areas where measles mortality rates are high.

Answer 1101

Pneumonia Otitis media Encephalitis Subacute sclerosing panencephalitis (SSPE)

Answer 1102

Most individuals recover from measles without sequelae and death is rare in developed countries. In developing countries, however, mortality rates vary from 2% to 15%. Malnourished, vitamin A-deficient, and immunocompromised children are most susceptible to morbidity, mortality, and complications such as pneumonia.

Answer 1103

Measles infection

Answer 1104

Measles infection

Answer 1105

Measles infection

Answer 1106

This topic focuses on postnatal rubella (German or 3-day measles), a mild, self-limiting, systemic infection caused by rubella virus. Up to one half of all cases are asymptomatic. The common manifestations of symptomatic infection include mild fever, a generalised rash, lymphadenopathy, conjunctivitis, and arthralgias or arthritis. Maternal infection in pregnancy, particularly early in gestation, may cause spontaneous abortion, fetal death, or a wide spectrum of anatomical and laboratory anomalies (congenital rubella syndrome). Treatment of symptomatic infection is largely supportive, as the illness is self-limiting. The most important consequence of rubella infection is congenital rubella syndrome, which may result from infection during pregnancy. Specialty consultation is strongly recommended for pregnant women with exposure to rubella. Rubella immunisation programmes have eliminated endemic spread of the virus in the UK and the Americas; most cases are imported or associated with imported infections.

Answer 1107

Previously 5-10yo peak incidence <10 people per year Most cases now affect adolescents and young adults.

Answer 1108

Incomplete immunisation Exposure to infectious contact International travel

Answer 1109

Rubella is caused by rubella virus, which is a togavirus and the only member of the genus Rubivirus Humans are the only natural host. The virus has a positive-stranded RNA genome and a glycolipid envelope. There is only 1 antigenic type. Rubella virus is readily inactivated by chemical agents, low pH, heat, and cold. Rubella is transmitted from human to human only by direct or droplet contact with infected body fluids, most commonly nasopharyngeal secretions. Patients may shed infectious virus from 7 to 30 days after infection (from 1 week before to 2 weeks after the onset of rash). However, infants with congenital rubella syndrome may be contagious for >1 year. 14 day incubation Rubella vaccines are reported to be approximately 97% effective in preventing disease after a single dose.

Answer 1110

COMMON RFs Macropapular rash often first presentation - usually begins on the face and spreads from the head to the feet. Occasionally, there may be a petechial component to the rash or palatal petechiae. The rash persists for an average of 3 to 4 days. Fever (low grade) Arthralgias Lympahenopathy Incomplete immunisation ``` PRODROME Malaise Coryza / pharyngitis Arthritis Conjuncitivits ```

Answer 1111

Rubella serology - IgM: positive in acute serum; IgG: seroconversion or 4-fold rise between acute and convalescent titres FBC - N / Occasionally thrombocytopenia may be present. This is thought to have an immunological basis. Consider Viral culture Reverse transcriptase PCR

Answer 1112

PREGNANT Specialist referral Human IM IG There is insufficient evidence to assess the effectiveness of polyclonal immunoglobulin administered to pregnant women for the prevention of congenital rubella in the fetus. Routine administration of immunoglobulin for post-exposure prophylaxis of rubella in pregnancy is not recommended, but this option may be considered if a pregnant woman will not consider termination of the pregnancy. NON PREGNANT Postnatal rubella is generally a mild, self-limiting condition that requires only symptomatic therapy. No specific antiviral therapy is available. A brief course of an NSAID, if no contraindication exists, may be helpful for patients with arthritis.

Answer 1113

Thombocytopenia Encephalitis Congenital rubella syndrome Neurological complications

Answer 1114

Postnatal rubella is generally a mild illness that resolves spontaneously over several days to 1 week. The most important consequence of postnatal rubella infection is congenital rubella syndrome. Arthritis Arthralgias and arthritis may persist for weeks or months or recur, particularly in adult women. However, the overall prognosis for joint function is good. Pregnant women Maternal infection in non-immune women during pregnancy, particularly early in gestation, may cause spontaneous abortion, fetal death, or a wide spectrum of anatomical and laboratory anomalies (congenital rubella syndrome).

Answer 1115

Erythema infectiosum is a childhood illness caused by infection with parvovirus B19. A 'slapped cheek' appearance with a lacy eruption on the torso and extremities is the most common presentation. Parvovirus B19 infection can also be associated with arthropathy and a purpuric cutaneous eruption. Select populations may be at risk for chronic anaemia or transient aplastic crises. Fetal complications include hydrops fetalis and intrauterine fetal demise. The classic childhood presentation is a 'slapped cheek' appearance followed by a reticular, erythematous eruption that is predominantly found on the extremities and may be preceded by mild systemic symptoms. Adults, more than children, may report arthritis and arthralgias. Most cases do not require specific treatment beyond symptomatic therapy and reassurance. Infection in pregnant women may result in fetal anaemia, hydrops fetalis, or intrauterine death. Persistent infection, lasting longer than approximately 3 weeks and accompanied by chronic anaemia, may occur in people who are immunosuppressed (e.g., patients with HIV, people receiving chemotherapy or immunosuppression following transplant, or patients with congenital immunodeficiencies). People with a high RBC turnover/destruction (e.g., those with hereditary spherocytosis, sickle cell disease, thalassaemia, iron deficiency anaemia) may develop transient aplastic crisis.

Answer 1116

Any age Any time Often late winter / early spring Direct contact / respiratory droplet / even blood Infection most common in school age children -> their family Seroprevalence for parvovirus B19 increases with age and by 15 years old, over 50% of adolescents have antiparvovirus antibodies.

Answer 1117

Erythema infectiosum is caused by parvovirus B19, a single-stranded, non-enveloped DNA virus. Humans are the only known hosts. Members of the family parvoviridae are frequent causes of infection in veterinary medicine but animal parvoviruses are not a cause of human infection. Parvovirus B19 infects erythrocyte progenitor cells, using the erythrocyte P antigen (globoside) as its receptor. Initial respiratory tract infection and replication is followed by a viraemia after 4 to 14 days, which ends with the appearance of anti-B19 IgM. IgG appears approximately 1 week later and coincides with the appearance of the typical exanthem and arthralgias.

Answer 1118

STRONG Close contact to infected WEAK Immunodeficiency

Answer 1119

COMMON Close contact to infected Slapped cheek - sparing nasal ridge and peri-oral areas Macules and papules appear 1 to 4 days after initial facial rash. Lacy reticular erythema lasts for 1 to 3 weeks although it may persist for longer. The generalised exanthem may intensify with increased body temperature; parents should be cautioned that this does not reflect the recrudescence of the disease. Arthralgia Prodrome - fever, ehadache, pharyngitis, coryza, abdominal pain Persistent parvovirus: Sx of anaemia

Answer 1120

Clinical - typical appearance of the classic 'slapped cheek' rash with a lacy, reticular exanthem on the extremities and torso Consider FBC - check for anaemia Reticulocyte count - decreased reticulocyte count Serology - positive IgM antibodies for parvovirus B19 PCR - presence of parvovirus B19 DNA

Answer 1121

ACUTE Paracetmol / supportive / ibuprofen As in any viral illness, maintaining hydration and appropriate rest is indicated. Persistent (>3w) In immunosuppressed patients, discontinuation of immunosuppressive therapy or institution of antiretroviral therapy in patients with HIV may terminate persistent parvovirus B19 infection and thus resolve the anaemia. RBC transfusion may be required in the interim to prevent complications of anaemia. normal immunoglobulin human: adults: 400 mg/kg/day intravenously for 5 days

Answer 1122

Parvovirus B19-induced fetal anaemia may result in high-output CHF and intrauterine death may occur. Transient aplastic crisis, causing a decrease in haemoglobin levels with absent to low reticulocytes during acute infection and resolving within days to weeks, is seen in patients with increased red-cell turnover or destruction.

Answer 1123

Erythema infectiosum is self-limited and resolves without sequelae in the majority of cases. Parents of children should be advised that the generalised exanthem may persist for several weeks and may intensify with increased body temperature (bathing, exertion), but this does not represent recrudescence of the disease. In the immunosuppressed population, persistent B19 infection with resultant anaemia may occur.

Answer 1124

erythema infectiosum / parvovirus B19

Answer 1125

erythema infectiosum / parvovirus B19

Answer 1126

Roseola infantum (also called exanthema subitum, sixth disease) is a common early childhood febrile illness, usually characterised by 3 to 5 days of high fever followed by onset of rash that appears with defervescence. The rash consists of asymptomatic pink-red macules and papules. Febrile seizures may occur. Roseola is usually caused by human herpesvirus (HHV)-6B, but occasionally by HHV-7 and rarely by other viruses. HHV-6A (associated with thyroiditis), HHV-6B (roseola), and HHV-7 (roseola) are roseoloviruses (within the betaherpesviruses subfamily), and all establish latency. HHV-6A and HHV-6B can occasionally integrate into the host chromosome. Reactivation of roseoloviruses may occur with immunosuppression. Roseola is a common febrile illness of early childhood; it is usually caused by human herpesvirus (HHV)-6B and occasionally by HHV-7. Roseola is usually characterised by 3 to 5 days of fever followed by onset of a morbilliform rash that appears with defervescence. The lesions are discrete 3- to 5-mm pink-red macules and papules that commonly begin on the neck and trunk and spread to the extremities. Roseola is usually a benign self-limited illness that has been associated with febrile seizures.

Answer 1127

6-24 months of age predominantly Rarely diagnosed before 3 months age or AFTER 4 years of age Human herpesvirus (HHV)-6B is found worldwide. Over 90% of children are seropositive for HHV-6B by 24 months of age. About 65% of children are seropositive for HHV-7 by 36 months of age. While more than 90% of children with primary HHV-6B infection have fever, only a minority develop classic roseola rash (reported as 23% in one study). Most have an undifferentiated febrile illness without rash.

Answer 1128

Roseola infantum is caused primarily by human herpesvirus (HHV)-6, sometimes by HHV-7, and rarely by other viruses, including coxsackievirus, echovirus, adenovirus, and parainfluenzavirus. The incubation period ranges from 1 to 2 weeks. HHV-6A (associated with thyroiditis), HHV-6B (roseola), and HHV-7 (roseola) are the 3 species of the roseolovirus genus, which is within the betaherpesviruses subfamily. Human herpesvirus (HHV)-6B and HHV-7 are most likely to be spread through respiratory secretions in asymptomatic contacts. HHV-6B and HHV-7 DNA may be found in saliva for extended periods of time following primary infection. These viruses are double-stranded DNA viruses and are trophic for CD4+ T lymphocytes.

Answer 1129

Age <2 | Immunosuppression

Answer 1130

COMMON RFs High fever 40deg, Sudden onset Typically peaks in early evening and persists for 3 to 5 days. Exanthem - the typical exanthem presents at the time of defervescence and consists of 3- to 5-mm pink-red macules and papules on the trunk, neck, and proximal extremities, and occasionally on the face ``` OTHER COMMON Diarrhoea Nagayama's spots - enanthem composed of red papules on the soft palate and uvula has been described. Tympanic membrane inflammation URT symptoms ``` UNCOMMON Seizures - Up to 15% of children will present with a seizure episode, and primary HHV-6 infection has been associated with approximately one-third of first-time childhood febrile seizures. Peri-orbital oedema Bulging anterior fontanelle Cervical/occipital/post-auricular lymphadenopathy

Answer 1131

Roseola can almost always be diagnosed based on the classic presentation of a previously healthy infant, 9 to 12 months of age, with a sudden onset of high fever for 3 to 4 days, followed by development of discrete red macules and papules on the trunk. For patients with this classic presentation, a clinical diagnosis can be made based on physical examination findings and history (usually at the time of defervescence). Laboratory investigation is seldom necessary. Can do viral culture / antibody detection

Answer 1132

Antipyretics / oral hydration

Answer 1133

Seizures Reactivation of latent virus Progression of HIV disease

Answer 1134

The large majority of patients experience an acute febrile illness that generally resolves without sequelae. There is very little risk of recurrence in healthy individuals. However, up to 15% of children with roseola experience seizures. For example, in one series, 13% of children with roseola experienced seizures, which may be prolonged or recurrent. Following a primary infection, the virus becomes latent in peripheral blood mononuclear cells, and reactivation after solid-organ or bone marrow transplantation has been associated with morbidity.

Answer 1135

roseola infantum

Answer 1136

roseola infantum

Answer 1137

Varicella (chickenpox), one of the childhood exanthemas, is caused by the human alpha herpes virus, varicella zoster. Varicella-zoster virus (VZV) is an exclusively human virus. The incubation period is about 14 days (range 9 to 21 days). Varicella is characterised by fever, malaise, and a generalised pruritic, vesicular rash. The disease normally presents in childhood and is usually self-limiting. Adverse outcomes are more common in immunocompromised people, adolescents, adults, and pregnant women. Adults, pregnant women, immunosuppressed patients, and neonates are at high risk of complications, including pneumonia, neurological sequelae, hepatitis, secondary bacterial infection, and death. Patients in high-risk categories should receive treatment with antiviral therapy. While most countries in Europe do not currently vaccinate children against varicella, vaccination strategies differ widely within the EU, with a few countries incorporating the vaccine into routine childhood vaccination, and others recommending it to susceptible adolescents and adults. In the US, varicella vaccine is currently recommended for immunocompetent children and susceptible adults (e.g., healthcare workers, those occupationally exposed to children, people admitted to hospital, military recruits). Patients with high risk for severe disease who have had significant exposure to the virus and in whom the vaccine is contraindicated (i.e., neonates, pregnant women, immunocompromised people, and those receiving high-dose systemic immunosuppressive therapy) may receive immunoprophylaxis or post-exposure antiviral prophylaxis.

Answer 1138

90% of unimmunised get infected Infection occurs at different ages in different parts of the world. India/caribbean/SEasia - 20-30yos UK/US - <10yo The virus is more prevalent in temperate climates, and outbreaks are more common in late winter and spring. Estimated hospital admission rates for varicella in developed countries range from 2 to 6 per 100,000 people and appear to be higher in African-American people and non-white Hispanic people.

Answer 1139

Varicella is caused by primary infection with the human alpha herpes virus, varicella zoster, in a non-immune host. Clinical disease is a manifestation of the second viraemic phase of the virus. Exposure to varicella-zoster virus (VZV) initiates production of host antibodies and cell-mediated immune responses, which are important for early control and limiting dissemination of primary varicella infection. After initial presentation, the virus then establishes lifelong latency in cranial nerves and dorsal root ganglia. In up to one third of cases, VZV may re-activate later in life to produce shingles (herpes zoster). Varicella occurs when a susceptible person is exposed to varicella-zoster virus (VZV) either by direct contact with lesions or through airborne spread from respiratory droplets. Patients remain infectious for at least 5 days and until all lesions have crusted over. The incubation period is typically 14 days.

Answer 1140

Age 1-9yo Exposure Unimmunised status Occupational exposure

Answer 1141

COMMON Fever <38-41 - Secondary bacterial infection should be considered in patients with persistent (i.e., >3 days) or recurrent fever. Vesicular rash - The rash usually first appears centrally (on the face, scalp, or torso), before spreading to the extremities. Lesions first appear as macules and quickly develop into fluid-filled vesicles. As the disease progresses, early lesions will begin to scab over as new peripheral lesions develop. This appearance of lesions in 'crops' (i.e., different stages of acuity/healing) is characteristic of varicella. Can see vesicles on mucous membranes ``` OTHER COMMON Pruritis Headache Fatigue/malasie Sore throat Tachycardia ```

Answer 1142

Clinical Ultrasound is recommended for all women who develop varicella in pregnancy, to screen for fetal consequences of infection. ``` Could do: PCR Viral culture Tzanck smear Latex agglutination ELISA Complement fixation US - pregnant women - ```

Answer 1143

Low risk - supportive, paracetamol, ibuprofen Can give dipenhydramine oral/topical to aid itching BUT -> Antihistamine treatment for varicella in children has been associated with ataxia, urinary retention, and other adverse effects. In addition, a warning has been issued against the use of some cough and cold medicines (many of them antihistamines) in children under the age of 2 years. Risks may outweigh benefits in young children. MODERATE RISK Those at moderate risk of severe disease include: patients 13 years of age and over; those with concurrent chronic skin disease (e.g., atopic dermatitis); those with concurrent underlying pulmonary disease; those receiving salicylate therapy; and those receiving short course or intermittent oral corticosteroids. ORAL ACICLOVIR HIGH RISK / SEVERE DISEASE Those at high risk of severe disease include: immunocompromised patients (e.g., organ transplant, chemotherapy, HIV infection); neonates; those taking chronic oral corticosteroids or high-dose systemic immunosuppressants; pregnant women. IV ACICLOVIR NB ABx can be considered if evidence of bacterial infection at sites of vesicles

Answer 1144

Secondary bacterial infection - Staphylococcus aureus and group A streptococcus Varicella caused: - Pneumonitis - Encephalitis - Cerebral ataxia - Meningitis - IC vasculitis - Hepatitis SEVERE infection in newborn Congential varicella syndrome - Presents as cicatricial skin lesions, limb hypoplasia or paresis, microcephaly, and ophthalmic lesions. Highest risk 13-20 weeks gestation Reye's syndrome - Associated with the use of aspirin or other salicylates. Presents with vomiting, encephalopathy, and metabolic disturbances such as hyperammonaemia and elevated liver enzymes. Herpes Zoster

Answer 1145

Typically, varicella is a self-limiting disease. After initial infection and clinical syndrome, no follow-up is necessary. In up to one third of infected people, varicella-zoster virus reactivates later in life as shingles or herpes zoster.

Answer 1146

acute varicella-zoster / chicken pox

Answer 1147

A common childhood viral infection that is most commonly caused by a coxsackievirus, characterised by low-grade fever, painful oral ulcers, and vesicles on the hands and feet. The disease has no relation to foot-and-mouth disease, which affects cattle and other cloven-hoofed animals. Diagnosis is usually clinical, based on a typical history and characteristic clinical features. Infection typically resolves spontaneously within 10 to 14 days, and treatment is mainly supportive. In East and South-east Asian countries, enterovirus 71 (EV71) is responsible for a more severe version of the disease with serious complications; however, this is uncommon in the US and Europe

Answer 1148

Coxsackievirus infection is extremely contagious. It affects males and females equally and is most common in children <10 years of age. However, infection in older children, adolescents, and adults can occur. Epidemics due to the more virulent strains of enterovirus 71 have occurred most often in East and South-east Asian countries such as Taiwan and Malaysia. These have resulted in severe illness with significant associated morbidity and mortality.

Answer 1149

Hand-foot-and-mouth disease is due to infection by some of the enteroviruses. Coxsackie A16 infection is the most common cause, but A4 through to A7, A9, and A10 infections also occur. The infection occurs when a susceptible person is exposed to the virus by means of direct contact with nose and throat discharges, saliva, vesicle fluid, or faecal material from an infected person. The virus may persist in faecal material for up to 1 month. After contact, the virus spreads to regional lymph nodes within 24 hours and viraemia rapidly follows, with spread of the virus to the oral mucosa and skin causing the vesicular rash. The incubation period is 4 to 7 days; however, there may be a prodromal period of 3 to 4 days. Lesions in the mouth heal within 1 week, and lesions on the hands and feet may last for up to 10 days. The genome is made of a single-stranded linear molecule of RNA.

Answer 1150

STRONG Immunosuppression Age <10 Family/school contacts Infection is spread by direct contact with nose and throat discharges, saliva, vesicle fluid, or faecal material from an infected person. The virus may persist in faecal material for up to 1 month.

Answer 1151

COMMON RFs Low grade fever <38.5 Oral vesicles - The oropharynx is inflamed, with scattered papules, macules, or vesicles, or more commonly yellowish ulcers on an erythematous base are present on the tongue, pharynx, buccal mucosa, gingiva, and occasionally the lips. Lesions heal within 1 week. Rash/vesicles on hands and feet - The rash consists of small oval or linear grey-white vesicopustules. The vesicles are flaccid and thin-walled, with an erythematous halo. They may occasionally be painful or pruritic. They tend to ulcerate and become crusted. Lesions may last up to 10 days. ``` OTHER Malaise Sore mouth Loss of appetite Sore throat ``` ``` UNCOMMON Rash/vesicles on buttocks Abdominal pain Diarrhoea Cough Tongue erythema Arthralgia ```

Answer 1152

Viral culture - Only used if exposure to enterovirus 71 (EV71) is a possibility (e.g., exposure in East or South-east Asia). FBC - Only used if exposure to enterovirus 71 (EV71) is a possibility (e.g., exposure in East or South-east Asia) -elevated WBC count, atypical lymphocyte

Answer 1153

Analgesia/antipyretics Lidocaine topical Maintaining adequate fluid and nutritional intake is important but may be difficult in patients with oral ulcers. Evidence SE Asia travel + severe: The complications that can occur with enterovirus 71 (EV71) infection include aseptic meningitis, encephalitis, encephalomyelitis, pulmonary oedema, pulmonary haemorrhage, myocarditis, a polio-like syndrome, and death.

Answer 1154

Volume depletion Secondary bacterial infection ``` EV71 associated: polio like syndrome Aseptic meningitis Myocarditis Pulmonary oedema/haemorrhage Congenital E71 infection Spontaneous miscarriage ```

Answer 1155

Spontaneous recovery with no complications is normal, and therefore follow-up is not usually required. However, infection with enterovirus 71, which occurs most often in East and South-east Asian countries, has caused more severe illness, with significant associated morbidity and mortality; one study from Taiwan found that 4% of patients had long-term sequelae, and death occurred in 8% of patients.

Answer 1156

Inguinal hernia is a type of ventral hernia that occurs when an intra-abdominal structure, such as bowel or omentum, protrudes through a defect in the abdominal wall. Most hernias that are present at birth or in childhood are indirect inguinal hernias. Other less common types of ventral hernias include umbilical, epigastric, and incisional hernias.

Answer 1157

Although the exact incidence of indirect inguinal hernia in infants and children is unknown, the reported incidence ranges from 1-5%. Sixty percent of hernias occur on the right side. Premature infants are at increased risk for inguinal hernia, with incidence rates of 2% in females and 7-30% in males. Approximately 5% of all males develop a hernia during their lifetime. Inguinal hernia appears to occur equally among races. Umbilical hernias, on the other hand, appear to be more common in blacks than in other races. Increased in mal

Answer 1158

The cause of inguinal hernia in children can be termed an abnormality of embryologic development of the fetus. However, some children may present with an acquired form of inguinal hernia, also called a direct inguinal hernia. In this type of hernia, weakness of the inguinal floor is present, which allows for protrusion of viscera from the abdominal cavity. The hernia sac is composed of the peritoneal fold that contains the hernia. Anatomically speaking, indirect and direct inguinal hernias differ in that the direct hernia bulges through the inguinal floor medial to the inferior epigastric vessels and the indirect hernia arises lateral to the inferior epigastric vessels. Either hernia may cause fullness or a palpable bulge in the inguinal region, and distinguishing between the two types on the basis of physical examination findings may be difficult. The clinician may assume, until proven otherwise, that the pediatric patient with an inguinal hernia has indirect inguinal hernia. ``` The following are associated with an increased risk of inguinal hernia: Prematurity and low birth weight (Incidence approaches 50%.) Urologic conditions Cryptorchidism Hypospadias Epispadias Exstrophy of the bladder Ambiguous genitalia Patent processus vaginalis, which may be present because of increased abdominal pressure due to ventriculoperitoneal shunts, peritoneal dialysis, or ascites Abdominal wall defects Gastroschisis Omphalocele Family history Meconium peritonitis Cystic fibrosis Connective tissue disease Mucopolysaccharidosis Congenital dislocation of the hip Ehlers-Danlos syndrome Marfan syndrome Cloacal exstrophy Fetal hydrops Liver disease with ascites Ventriculoperitoneal shunting for hydrocephalus ```

Answer 1159

Prematurity = increased risks MALE ``` The following are associated with an increased risk of inguinal hernia: Prematurity and low birth weight (Incidence approaches 50%.) Urologic conditions Cryptorchidism Hypospadias Epispadias Exstrophy of the bladder Ambiguous genitalia Patent processus vaginalis, which may be present because of increased abdominal pressure due to ventriculoperitoneal shunts, peritoneal dialysis, or ascites Abdominal wall defects Gastroschisis Omphalocele Family history Meconium peritonitis Cystic fibrosis Connective tissue disease Mucopolysaccharidosis Congenital dislocation of the hip Ehlers-Danlos syndrome Marfan syndrome Cloacal exstrophy Fetal hydrops Liver disease with ascites Ventriculoperitoneal shunting for hydrocephalus ```

Answer 1160

``` Bulge at internal / external ring / scrotum Visible swelling May be intermittent Pain/discomfort or not Commonly occurs after crying/straining May resolve in sleeping/atnight May be delayed descent of a testicle ``` INCARCERATED: Fussy/poor feeding/inconsolable Erythematous/discolouration In cases of incarceration, ischemic necrosis develops, and intestinal perforation may result, representing a true medical emergency. When an incarceration is encountered, an attempt should be made to reduce it manually if the patient has no signs of systemic toxicity (eg, leukocytosis, severe tachycardia, abdominal distention, bilious vomiting, discoloration of the entrapped viscera). Hernia and hydrocele: In boys, differentiating between a hernia and a hydrocele is not always easy. Transillumination has been advocated as a means of distinguishing between the presence of a sac filled with fluid in the scrotum (hydrocele) and the presence of bowel in the scrotal sac. Silk sign: When the hernia sac is palpated over the cord structures, the sensation may be similar to that of rubbing 2 layers of silk together. This finding is known as the silk sign and is highly suggestive of an inguinal hernia. Femoral hernia: A femoral hernia can be very difficult to differentiate from an indirect inguinal hernia. Its location is below the inguinal canal, through the femoral canal. The differentiation is often made only at the time of operative repair, once the anatomy and relationship to the inguinal ligament is clearly visualized. The signs and symptoms for femoral hernias are essentially the same as those described for indirect inguinal hernias.

Answer 1161

No laboratory studies are needed in the assessment of a patient with a suspected inguinal hernia and/or hydrocele. Imaging studies are generally not indicated to assess for inguinal hernia. However, ultrasonography can be helpful in the assessment of selected patients.

Answer 1162

Generally, a surgical consultation should be made at the time of diagnosis, and repair (on an elective basis) should be performed very soon after the diagnosis is confirmed. Parents may be instructed on the application of gentle pressure on the bulge of an inguinal hernia to prevent incarceration until the elective operative repair is performed. Umbilical hernias: Most umbilical hernias do not cause any symptoms and do not require surgical repair until approximately age 5 years. For that reason, almost all umbilical hernias in young children and infants are managed by simple observation.

Answer 1163

An incarcerated or strangulated inguinal hernia can result in severe complications and even death. An incarcerated or strangulated inguinal and/or femoral hernia may also result in significant sequela, depending on which visceral structure is involved in the hernia sac. Such sequela can range from life-threatening complications to gonadal dysfunction, including intestinal necrosis and perforation, intestinal obstruction, intestinal stricture, testicular necrosis, testicular atrophy, ovarian necrosis, ovarian atrophy, and tubal stricture.

Answer 1164

Since the first cases of human immunodeficiency virus (HIV) infection were identified, the number of children infected with HIV has risen dramatically in developing countries, the result of an increased number of HIV-infected women of childbearing age in these areas. HIV is a retrovirus and can be transmitted vertically, sexually, or via contaminated blood products or IV drug abuse. Vertical HIV infection occurs before birth, during delivery, or after birth.

Answer 1165

HIV can be transmitted vertically, sexually, or via contaminated blood products or IV drug abuse. Vertical HIV infection occurs before birth, during delivery, or after birth. With infection before birth (period 1), the fetus can be hematologically infected by means of transmission across the placenta or across the amniotic membranes, especially if the membranes are inflamed or infected. Most vertical infections occur during delivery (period 2), and many factors affect the risk of infection during this period (see Deterrence/Prevention). In general, the longer and the greater amount of contact the neonate has with infected maternal blood and cervicovaginal secretions, the greater the risk of vertical transmission. Premature and low-birthweight neonates appear to have an increased risk of infection during delivery because of their reduced skin barrier and immunologic defenses. Postnatal vertical transmission (period 3) occurs with the ingestion of HIV in the breast milk.

Answer 1166

Infected mother

Answer 1167

Unusually frequent and severe occurrences of common childhood bacterial infections, such as otitis media, sinusitis, and pneumonia Recurrent fungal infections, such as candidiasis (thrush), that do not respond to standard antifungal agents: Suggests lymphocytic dysfunction Recurrent or unusually severe viral infections, such as recurrent or disseminated herpes simplex or zoster infection or cytomegalovirus (CMV) retinitis; seen with moderate to severe cellular immune deficiency Growth failure Failure to thrive Wasting Failure to attain typical milestones: Suggests a developmental delay; such delays, particularly impairment in the development of expressive language, may indicate HIV encephalopathy Behavioral abnormalities (in older children), such as loss of concentration and memory, may also indicate HIV encephalopathy Candidiasis: Most common oral and mucocutaneous presentation of HIV infection Thrush in the oral cavity and posterior pharynx: Observed in approximately 30% of HIV-infected children Linear gingival erythema and median rhomboid glossitis Oral hairy leukoplakia Parotid enlargement and recurrent aphthous ulcers Herpetic infection with herpes simplex virus (HSV): May manifest as herpes labialis, gingivostomatitis, esophagitis, or chronic erosive, vesicular, and vegetating skin lesions; the involved areas of the lips, mouth, tongue, and esophagus are ulcerated HIV dermatitis: An erythematous, papular rash; observed in about 25% of children with HIV infection Dermatophytosis: Manifesting as an aggressive tinea capitis, corporis, versicolor, or onychomycosis Pneumocystis jiroveci (formerly P carinii) pneumonia (PCP): Most commonly manifests as cough, dyspnea, tachypnea, and fever Lipodystrophy: Presentations include peripheral lipoatrophy, truncal lipohypertrophy, and combined versions of these presentations; a more severe presentation occurs at puberty Digital clubbing: As a result of chronic lung disease Pitting or nonpitting edema in the extremities Generalized cervical, axillary, or inguinal lymphadenopathy

Answer 1168

Because of the persistence of the maternal HIV antibody, infants younger than 18 months require virologic assays that directly detect HIV in order to diagnose HIV infection Preferred virologic assays include HIV bDNA polymerase chain reaction (PCR) and HIV RNA assays. The HIV PCR DNA qualitative test is usually less expensive. Further virologic testing in infants with known perinatal HIV exposure is recommended at 2 weeks, 4 weeks, and 4 months An antibody test to document seroreversion to HIV antibody–negative status in uninfected infants is no longer recommended. In older children and adults, an enzyme-linked immunosorbent assay (ELISA) to detect HIV antibody, followed by a confirmatory Western blot (which has increased specificity), should be used to diagnose HIV infection. Rapid HIV tests, which provide results in minutes, simplify and expand the availability of HIV testing. Their sensitivity is as high as 100%, but they must be followed with confirmatory Western blotting or immunofluorescence antibody testing, as with conventional HIV antibody tests.

Answer 1169

Combination ART with at least 3 drugs from at least 2 classes of drugs is recommended for initial treatment of infected infants, children, and adolescents because it provides the best opportunity to preserve immune function and delay disease progression. Drug combinations for initial therapy in ART-naive children include a backbone of 2 NRTIs plus 1 NNRTI or 1 PI. Nucleoside or nucleotide reverse transcriptase inhibitors (NRTIs) Protease inhibitors (PIs) Nonnucleoside reverse transcriptase inhibitors (NNRTIs) Fusion inhibitors CCR5 coreceptor antagonists (entry inhibitors) HIV integrase strand transfer inhibitors In addition to antiretroviral drugs (ARDs), other types of medication are required as appropriate for specific infections or malignancies. For example, P jiroveci pneumonia prophylaxis is recommended in patients who are HIV positive and younger than 1 year and in older children based on CD4+ counts.

Answer 1170

The nutritional status of the child and the diligence with which viral replication is controlled are paramount in determining the outcome of most children with HIV disease. Aggressive treatment of opportunistic infections prevents the more deleterious effects of secondary disease from progressing and further weakening the patient. The social setting and the stressors to which children are exposed have also been linked to the progression of the disease. Hematologic disturbances, such as anemia, thrombocytopenia, and neutropenia, increase the risk of complications and death. Resolution of anemia improves the prognosis, and treatment of anemia with erythropoietin improves survival. Neutropenia significantly increases the risk of bacterial infection, and treatment of neutropenia with granulocyte colony-stimulating factor substantially decreases the risk of bacteremia and death. Infection with Mycobacteriumavium complex (MAC) hastens death, especially in patients with coexisting anemia (defined as a hematocrit < 25%).

Answer 1171

Ulcerative colitis (UC) is a disease characterized by remitting and relapsing inflammation of the large intestine. Many patterns of presentation are possible within the pediatric age group. The hallmark symptoms of UC include abdominal cramping, diarrhea, and bloody stools, but physical symptoms vary with extent, duration, and severity of the disease. UC affects the rectum, with contiguous involvement that can include the entire large intestine. Extraintestinal manifestations of UC, such as joint pain, ophthalmic conditions, and hepatobiliary disease may occur in some patients.

Answer 1172

2 per 100k age 10-19 20-25% of all cases UC occur in persons aged 20 years or younger and the disease is increasing among young children UC incidence peaks between adolescence and early adulthood (ie, in people aged 15-30 y). A smaller peak occurs in patients aged 60-80 years.

Answer 1173

Unclear UC is probably an autoimmune disease initiated by an inflammatory response to colonic bacteria. Immune dysfunction has been postulated as a cause, with limited evidence. UC might also be linked to diet, although diet is thought to play a secondary role. Food or bacterial antigens might affect the already damaged mucosal lining, which has increased permeability.

Answer 1174

STRONG FHx HLA-B27 Infection WEAK NSAIDS Not smoking/former smoker

Answer 1175

Rectal bleeding Diarrhoea Abdominal pain Mild disease is observed in 50-60% of patients. This presentation involves insidious onset of diarrhea, later associated with hematochezia. No systemic findings of fever, weight loss, or hypoalbuminemia are observed. Mild UC is typically confined to the distal colon and responds well to therapy. Moderate disease is observed in 30% of patients and is characterized by bloody diarrhea, cramps, urgency to defecate, and abdominal tenderness. Associated systemic findings, such as anorexia, weight loss, low-grade fever, and mild anemia, are present. Severe disease occurs in approximately 10% of patients. This presentation involves more than 6 bloody stools per day, abdominal tenderness, fever, anemia, leukocytosis, and hypoalbuminemia. Patients with severe colitis may experience life-threatening complications, including severe hemorrhage, toxic megacolon, or intestinal perforation. Less than 5% of children with UC present with predominantly extraintestinal manifestations, such as growth failure, arthropathy, skin manifestations, or liver disease. Abdo tenderness Associated liver signs if involvement Arthralgia Unlike what is seen in some CD patients, perianal examination in UC patients should not reveal any evidence of fistulae or abscesses; chronic diarrhea may lead to perianal erythema, fissuring, or hemorrhoids, however. Sexual development may be delayed in patients with UC, but this finding is more common in patients with CD.

Answer 1176

Colonoscopy (opportunity for "pill cam") - Continuous - Mucosa typically appears erythematous, friable, and granular and has lost the normally visible vascular markings Biopsy - polymorphonuclear leukocytes near the base of the crypts. Cryptitis describes aggregation of polyps in the crypt epithelium, and the term crypt abscess is used when polyps have accumulated in the lumen of the crypt. ANCA assay results are positive in 60-80% of UC patients. (mainly pANCA) FBC - ID anaemia Stool culture - rule out infection ESR + CRP - high Can do: Upper GI series, barium enema, CT, MRI - but these are all contraindicated if colonoscopy is conclusive

Answer 1177

MILD Sulfsalazine/mesalamine - Oral or suppository Probiotics MOD-SEVERE Oral/IV Corticosteroids can be given short term - not indicated LT Azathioprine or 6-mercaptopurine useful if steroid-dependent [SEs of pancreatitis, hepatitis, and bone marrow suppression] FULMINANT Treatments for fulminant disease include cyclosporine (nephrotoxic), tacrolimus (nephrotoxicity, bone marrow suppression, and neurologic symptoms), and infliximab (hepatosplenic T-cell lymphoma). Total proctocolectomy In children, elective colectomy is indicated when refractory disease significantly interferes with their growth and nutrition or with their ability to maintain a normal lifestyle (ie, attend school) or when dysplasia or malignancy is detected.

Answer 1178

Although many children with UC have a mild course and respond well to therapy, severe complications can arise in patients with ulcerative colitis during acute exacerbations of disease or as the disease progresses. ``` Toxic megacolon Colonic malignancy Pyoderma gangrenous Uveitis, arthritis PSC Cholelithiasis Thromboembolic disease ```

Answer 1179

Crohn disease, a chronic inflammatory bowel disease (see the image below) that was once considered rare in the pediatric population, is currently recognized as one of the most important chronic diseases that affect children and adolescents. Approximately 20-30% of all patients with Crohn disease present when they are younger than 20 years. In addition to the common GI symptoms (diarrhea, rectal bleeding, and abdominal pain), children with Crohn disease often experience growth failure, malnutrition, pubertal delay, and bone demineralization.

Answer 1180

Incidence of 3.5-100k in 10-19yos IN PAEDS M>F Crohn disease is more common in whites than in blacks and is rare in Asian and Hispanic children. Rates are higher in people of Jewish descent, particularly Ashkenazi Jews and Jews of middle European origin compared with Sephardic or eastern European Jews.

Answer 1181

The pathogenesis of Crohn disease is multifactorial. After a triggering event occurs in a genetically susceptible individual, an altered immune response leads to chronic inflammation of the intestine. Although the etiology of the precipitating event is unknown, luminal bacteria or specific antigens are thought to be involved.

Answer 1182

STRONG White ancestry 15-40 or 60-80 FHx ``` WEAK Cigarette smoking High refined sugar diet OCP Not breast fed NSAIDS ```

Answer 1183

With upper GI tract involvement, nausea, vomiting, and abdominal pain dominate as presenting symptoms. Children with Crohn disease of the small intestine usually present with evidence of malabsorption, including the following: Diarrhea Abdominal pain Growth deceleration Weight loss Anorexia Initially, manifestations of malabsorption may be quite subtle. The onset of growth failure is usually insidious and may precede GI symptoms by years. Colonic Crohn disease may be clinically indistinguishable from ulcerative colitis (UC), with manifestations that include the following: Bloody mucopurulent diarrhea Cramping abdominal pain Urgency to defecate Perianal involvement in Crohn disease may produce the following: Simple skin tags, fissures, abscesses, and fistulae Painful defecation Bright-red rectal bleeding Perirectal pain, erythema, or discharge Physical examination findings Vital signs are usually normal, although tachycardia may be present in anemic patients Chronic intermittent fever is a common presenting sign Body weight and height may reveal weight loss and growth delay The most sensitive indicator of growth abnormalities is a decrease in growth velocity, which may be observed before the major percentile lines on standard growth curves are crossed Abdominal findings may vary from normal to those of an acute abdomen; diffuse abdominal tenderness is common; fullness or a discrete mass may be palpable, typically in the right lower quadrant Perianal disease (eg, skin tags, abscesses, fistulae, fissures) is present in approximately 45% of patients Tanner staging may indicate pubertal delay, which may precede the onset of intestinal symptoms The most common cutaneous manifestations are erythema nodosum and pyoderma gangrenosum Skin examination may also reveal pallor in patients with anemia or jaundice in those with concomitant liver disease The most common ocular findings are episcleritis and anterior uveitis The most common extraintestinal manifestations of Crohn disease are arthritis and arthralgia, typically involving the large joints (eg, hips, knees, ankles)

Answer 1184

Laboratory data for Crohn disease are nonspecific, as follows: The CBC may show hypochromic microcytic anemia, from iron deficiency due to GI blood loss, or normocytic anemia of chronic disease levels of acute-phase reactants (ESR and CRP) are often elevated in patients with Crohn disease but may be normal Hypoalbuminemia is common Additional common deficiencies include iron and micronutrients (eg, folic acid, vitamin B-12, serum iron, total iron binding capacity, calcium, and magnesium) Stool studies should be obtained to rule out bacterial or parasitic infection Excretion of fecal calprotectin is increased with colorectal inflammation [1] ; on ELISA, the cutoff level is 50 µg/g feces. Endoscopy Colonoscopy with several colonic and terminal ileal biopsies is considered a standard diagnostic procedure Upper endoscopy, or esophagogastroduodenoscopy (EGD), should be part of the first-line investigation Video capsule endoscopy is increasingly being used to evaluate for small-bowel Crohn disease in children [4] Imaging studies A single-contrast upper GI radiologic series with small-bowel follow-through (SBFT) can be used to evaluate the small intestine, which cannot be reached during endoscopy Magnetic resonance enterography (MRE) [2] and computed tomography enterography (CTE) are as sensitive and specific as SBFT for detection of small bowel inflammation and may be more accurate for detection of extraenteric complications, including fistulae and abscesses [3] MRI is especially useful in the evaluation of pelvic and perianal disease Abdominal ultrasonography (US) can be used to investigate intestinal disease and to rule out gallbladder and kidney stones The microscopic findings in intestinal biopsy samples from pediatric patients with Crohn disease consist of edema, inflammation (mononuclear and polymorphonuclear), cryptitis and crypt abscesses, architectural crypt changes, and transmural extension of the inflammation (see the image below). The presence of granulomas may be helpful in differentiating between UC and Crohn disease, but granulomas are present in only about 30% of biopsy specimens obtained from patients with Crohn disease.

Answer 1185

tep-up approach Patients with mild disease are treated with preparations of 5-aminosalicylic acid (5-ASA), antibiotics, and nutritional therapy If no response occurs or if the disease is more severe than was initially thought, corticosteroid and immunomodulatory therapy with 6-mercaptopurine (6-MP) or methotrexate (MTX) is i Infliximab is effective in patients who have an inadequate response to conventional therapy and in patients who have fistulizing Crohn disease [5] Adalimumab is a safe and effective substitute for patients who are allergic to infliximab or develop high titers of human antichimeric antibodies (HACA) [6] Surgery is considered when medical therapy fails Indications for surgery include the following: Intractable disease with growth failure Obstruction or severe stenosis Abscess requiring drainage Perianal fistulae Intractable hemorrhage Perforation Features of surgery are as follows: Recurrence of disease at the anastomotic site is common after resection Surgical treatment for Crohn disease is not curative Laparoscopic techniques are becoming the standard of care

Answer 1186

Although Crohn disease may have a sizable effect on the life of a child or adolescent, with appropriate treatment and support, the prognosis is good, and the risk of a fatal outcome is extremely low. Death from Crohn disease is extremely rare in children and adolescents. Severe and complicated Crohn disease may result in prolonged hospitalizations, multiple surgical procedures, growth failure, malnutrition, pubertal delay, and poor quality of life.

Answer 1187

Necrotizing enterocolitis (NEC), which typically occurs in the second to third week of life in premature, formula-fed infants, is characterized by variable damage to the intestinal tract, ranging from mucosal injury to full-thickness necrosis and perforation (see the image below). NEC affects close to 10% of infants who weigh less than 1500 g, with mortality rates of 50% or more depending on severity, but may also occur in term and near-term babies.

Answer 1188

PRETERM - Presents during first several weeks of birth. Usually onset = when would have been born. black > white Incidence = 0.3-2.4 cases per 1000 live births

Answer 1189

Although the exact etiology of necrotizing enterocolitis (NEC) remains unknown, research suggests that it is multifactorial; ischemia and/or reperfusion injury, exacerbated by activation of proinflammatory intracellular cascades, may play a significant role. Cases that cluster in epidemics suggest an infectious etiology. Gram-positive and gram-negative bacteria, fungi, and viruses have all been isolated from affected infants; however, many infants have negative culture findings.

Answer 1190

Prematurity Anything that can cause ischaemia IE Maternal HTN/Pre-eclampsia/cocaine OR PDA/congenital HD Numerous medications have been implicated as a risk factor in NEC. Xanthine derivatives, such as theophylline and aminophylline, slow gut motility and produce oxygen free radicals during their metabolism to uric acid. Indomethacin, used to treat patent ductus arteriosus, may cause splanchnic vasoconstriction leading to impaired intestinal integrity. Vitamin E, used to treat retinopathy of prematurity, is known to impair leukocyte function and has been associated with NEC. Inhibitors of gastric acid secretion alter the pH of the intestinal milieu, which subsequently affects the intestinal flora.

Answer 1191

Initial symptoms may be subtle and can include 1 or more of the following: Vomiting Diarrhea Delayed gastric emptying Abdominal distention, abdominal tenderness, or both Ileus/decreased bowel sounds Abdominal wall erythema (advanced stages) Hematochezia Systemic signs are nonspecific and can include any combination of the following: Apnea Lethargy Decreased peripheral perfusion Shock (in advanced stages) Cardiovascular collapse Bleeding diathesis (consumption coagulopathy) Physical findings in patients with NEC can be primarily GI, primarily systemic, indolent, fulminant, or any combination of these. Gastrointestinal signs can include any or all of the following: Increased abdominal girth Visible intestinal loops Obvious abdominal distention and decreased bowel sounds Change in stool pattern Hematochezia Palpable abdominal mass Erythema of the abdominal wall Systemic signs can include any of the following: Respiratory failure Decreased peripheral perfusion Circulatory collapse

Answer 1192

WBC – Moderate to profound neutropenia (absolute neutrophil count [ANC] < 1500/μL) strongly suggests established sepsis Hematocrit and hemoglobin – Blood loss from hematochezia and/or a developing consumptive coagulopathy can manifest as an acute decrease in hematocrit; an elevated hemoglobin level and hematocrit may mark hemoconcentration due to notable accumulation of extravascular fluid Platelet count – Thrombocytopenia may be present Other laboratory findings Blood culture is usually negative Hyponatremia – An acute decrease in serum sodium (< 130 mEq/dL) is alarming Low serum bicarbonate (< 20) may be seen in babies with poor tissue perfusion, sepsis, and bowel necrosis Reducing substances may be identified in the stool of formula-fed infants A breath hydrogen test may be positive Arterial blood gas levels may indicate the infant's need for respiratory support and can provide information on the acid-base status Abdominal radiography An AP and a left lateral decubitus view are essential for initial evaluation Should be performed serially at 6-hour or greater intervals, depending on presentation acuity and clinical course, to assess disease progression Characteristic findings on AP views include an abnormal gas pattern, dilated loops, and thickened bowel walls A fixed and dilated loop that persists over several examinations is especially worrisome Scarce or absent intestinal gas is more worrisome than diffuse distention that changes over time Other radiographic findings include the following: Pneumatosis intestinalis – Pathognomic of NEC Abdominal free air – Ominous; patients usually require emergency surgical intervention Portal gas – A poor prognostic sign Distended loops of small bowel – Common but nonspecific Intraperitoneal free fluid Can do USS but very operator dependent

Answer 1193

Stop enteral feedings Perform nasogastric decompression Initiate broad-spectrum antibiotics (eg, ampicillin, gentamicin, and clindamycin or metronidazole) Bell stages IA and IB – suspected disease NPO diet and antibiotics for 3 days IV fluids, including total parenteral nutrition (TPN) Bell stages IIA and IIB – definite disease Support for respiratory and cardiovascular failure, including fluid resuscitation NPO diet and antibiotics for 14 days Consider surgical consultation After stabilization, provide TPN while the infant is NPO ``` Bell stage IIIA – advanced disease NPO for 14 days Fluid resuscitation Inotropic support Ventilator support Obtain surgical consultation Provide TPN during the period of NPO Surgical intervention ```

Answer 1194

The mortality rate in NEC ranges from 10% to more than 50% in infants who weigh less than 1500 g, depending on the severity of disease, compared with a mortality rate of 0-20% in babies who weigh more than 2500 g. Extremely premature infants (1000 g) are still particularly vulnerable, with reported mortality rates of 40-100%. One study comparing mortality rates for term versus preterm infants reported rates of 4.7% for term infants and 11.9% for premature babies. The improvement in treatment efficacy in infants with NEC is underscored by the fact that if patients with pan involvement are excluded, the survival in surgically treated infants with NEC is 95%. The 2 most common complications are intestinal stricture and short-gut syndrome. Also: Cholestatic liver disease Recurrent NEC Neurodevelopmental disorders

Paediatrics Flashcards

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