Paeds Flashcards

Question

ebstein anomaly

Answer 1

Ebstein's anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as 'atrialisation' of the right ventricle. Ebstein's anomaly may be caused by exposure to lithium in-utero. Associations patent foramen ovale (PFO) or atrial septal defect (ASD) is seen in at least 80% of patients, resulting in a shunt between the right and left atria Wolff-Parkinson White syndrome Clinical features cyanosis prominent 'a' wave in the distended jugular venous pulse, hepatomegaly tricuspid regurgitation pansystolic murmur, worse on inspiration right bundle branch block → widely split S1 and S2

Answer 2

is always pathological and your differentials are: rhesus haemolytic disease (RHD) ABO incompatibility Glucose-6-phosphate dehydrogenase (G6PD) deficiency hereditary spherocytosis A blood film will show bite and blister cells in G6PD deficiency or spherocytes in hereditary spherocytosis. It would be correct to say that an osmotic fragility test would also be useful in the diagnosis but that option is not provided. Another useful test would be a Coomb’s test (this would be positive in RHD). An exchange transfusion might be necessary but it is pertinent to understand the underlying cause; phototherapy is the first line management option. A urine sample and thyroid function tests would be useful in prolonged jaundice (>14 days in term / >21 days in premature infants) because urinary tract infection or hypothyroidism may be the underlying cause.

Answer 3

Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological. It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function. It is more commonly seen in breastfed babies

Answer 4

If there are still signs of jaundice after 14 days (21 days if premature) a prolonged jaundice screen is performed, including: conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention direct antiglobulin test (Coombs' test) TFTs FBC and blood film urine for MC&S and reducing sugars U&Es and LFTs

Answer 5

biliary atresia hypothyroidism galactosaemia urinary tract infection breast milk jaundice jaundice is more common in breastfed babies mechanism is not fully understood but thought to be due to high concentrations of beta-glucuronidase → increase in intestinal absorption of unconjugated bilirubin prematurity due to immature liver function increased risk of kernicterus congenital infections e.g. CMV, toxoplasmosis

Answer 6

Kawasaki disease is a type of vasculitis which is predominately seen in children. Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms. Features high-grade fever which lasts for > 5 days. Fever is characteristically resistant to antipyretics conjunctival injection bright red, cracked lips strawberry tongue cervical lymphadenopathy red palms of the hands and the soles of the feet which later peel Kawasaki disease is a clinical diagnosis as there is no specific diagnostic test. Management high-dose aspirin Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye's syndrome aspirin is normally contraindicated in children intravenous immunoglobulin echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms Complications coronary artery aneurysm

Answer 7

Athetosis is a symptom characterized by slow, involuntary, convoluted, writhing movements of the fingers, hands, toes, and feet Dyskinetic cerebral palsy is correct. This child is presenting with general symptoms of cerebral palsy - namely being slow to meet developmental milestones and feeding difficulties. This child is displaying symptoms of dyskinetic cerebral palsy, a subtype of cerebral palsy. Key symptoms that differentiate dyskinetic cerebral palsy from other subtypes are athetoid movements and oro-motor problems. The athetoid movements are shown in this stem by the slow writhing movements of his hands and feet and also the difficulty of holding onto objects. Patients with dyskinetic cerebral palsy experience difficulty in holding objects due to fluctuating muscle tone. The oro-motor problems are evidenced by this child's drooling.

Answer 8

Cerebral palsy may be defined as a disorder of movement and posture due to a non-progressive lesion of the motor pathways in the developing brain. It affects 2 in 1,000 live births and is the most common cause of major motor impairment. Causes antenatal (80%): e.g. cerebral malformation and congenital infection (rubella, toxoplasmosis, CMV) intrapartum (10%): birth asphyxia/trauma postnatal (10%): intraventricular haemorrhage, meningitis, head-trauma ``` Possible manifestations include: abnormal tone early infancy delayed motor milestones abnormal gait feeding difficulties. ``` ``` Children with cerebral palsy often have associated non-motor problems such as: learning difficulties (60%) epilepsy (30%) squints (30%) hearing impairment (20%) ``` Classification spastic (70%) subtypes include hemiplegia, diplegia or quadriplegia increased tone resulting from damage to upper motor neurons dyskinetic caused by damage to the basal ganglia and the substantia nigra athetoid movements and oro-motor problems ataxic caused by damage to the cerebellum with typical cerebellar signs mixed Management as with any child with a chronic condition a multidisciplinary approach is needed treatments for spasticity include oral diazepam, oral and intrathecal baclofen, botulinum toxin type A, orthopaedic surgery and selective dorsal rhizotomy anticonvulsants, analgesia as required

Answer 9

Turner's syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner's syndrome is denoted as 45,XO or 45,X. Features short stature shield chest, widely spaced nipples webbed neck bicuspid aortic valve (15%), coarctation of the aorta (5-10%) primary amenorrhoea cystic hygroma (often diagnosed prenatally) high-arched palate short fourth metacarpal multiple pigmented naevi lymphoedema in neonates (especially feet) gonadotrophin levels will be elevated hypothyroidism is much more common in Turner's horseshoe kidney: the most common renal abnormality in Turner's syndrome There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn's disease

Answer 10

Scarlet fever is a reaction to erythrogenic toxins produced by Group A haemolytic streptococci (usually Streptococcus pyogenes). It is more common in children aged 2 - 6 years with the peak incidence being at 4 years. Scarlet fever is spread via the respiratory route by inhaling or ingesting respiratory droplets or by direct contact with nose and throat discharges, (especially during sneezing and coughing). Scarlet fever has an incubation period of 2-4 days and typically presents with: fever: typically lasts 24 to 48 hours malaise, headache, nausea/vomiting sore throat 'strawberry' tongue rash fine punctate erythema ('pinhead') which generally appears first on the torso and spares the palms and soles children often have a flushed appearance with circumoral pallor. The rash is often more obvious in the flexures it is often described as having a rough 'sandpaper' texture desquamination occurs later in the course of the illness, particularly around the fingers and toes Diagnosis a throat swab is normally taken but antibiotic treatment should be commenced immediately, rather than waiting for the results Management oral penicillin V for 10 days patients who have a penicillin allergy should be given azithromycin children can return to school 24 hours after commencing antibiotics scarlet fever is a notifiable disease Scarlet fever is usually a mild illness but may be complicated by: otitis media: the most common complication rheumatic fever: typically occurs 20 days after infection acute glomerulonephritis: typically occurs 10 days after infection invasive complications (e.g. bacteraemia, meningitis, necrotizing fasciitis) are rare but may present acutely with life-threatening illness

Answer 11

A score of 0-3 is very low score, between 4-6 is moderate low and between 7 - 10 means the baby is in a good state ``` Pulse resp rate colour muscle tone reflex irratibillity ```

Answer 12

Croup is a form of upper respiratory tract infection seen in infants and toddlers. It is characterised by stridor which is caused by a combination of laryngeal oedema and secretions. Parainfluenza viruses account for the majority of cases. Epidemiology peak incidence at 6 months - 3 years more common in autumn ``` Features stridor barking cough (worse at night) fever coryzal symptoms ``` CKS suggest admitting any child with moderate or severe croup. Other features which should prompt admission include: < 6 months of age known upper airway abnormalities (e.g. Laryngomalacia, Down's syndrome) uncertainty about diagnosis (important differentials include acute epiglottitis, bacterial tracheitis, peritonsillar abscess and foreign body inhalation) Investigations the vast majority of children are diagnosed clinically however, if a chest x-ray is done: a posterior-anterior view will show subglottic narrowing, commonly called the 'steeple sign' in contrast, a lateral view in acute epiglottis will show swelling of the epiglottis - the 'thumb sign' Management CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity prednisolone is an alternative if dexamethasone is not available Emergency treatment high-flow oxygen nebulised adrenaline

Answer 13

transient cessation of respiration whether normal

Answer 14

Birth: Dry the baby, remove any wet towels and cover and start the clock or note the time. Within 30 seconds: Assess tone, breathing and heart rate. Within 60 seconds: If gasping or not breathing - open the airway and give 5 inflation breaths Re-assess: If no increase in heart rate look for chest movement If chest not moving: Recheck head position, consider 2-person airway control and other airway manoeuvres, repeat inflation breaths and look for a response. If no increase in heart rate look for chest movement When the chest is moving: If heart rate is not detectable or slow (< 60 min-1) - start chest compressions with 3 compressions to each breath. Reassess heart rate every 30 seconds. If heart rate is not detectable or slow (<60 beats per minute) consider venous access and drugs

Answer 15

femoral and brachial pulse assessed

Answer 16

compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used age definitions: an infant is a child under 1 year, a child is between 1 year and puberty Key points of algorithm (please see link attached for more details) unresponsive? shout for help open airway look, listen, feel for breathing give 5 rescue breaths check for signs of circulation infants use brachial or femoral pulse, children use femoral pulse 15 chest compressions:2 rescue breaths (see above) chest compressions should be 100-120/min for both infants and children depth: depress the lower half of the sternum by at least one-third of the anterior–posterior dimension of the chest (which is approximately 4 cm for an infant and 5 cm for a child) in children: compress the lower half of the sternum in infants: use a two-thumb encircling technique for chest compression

Answer 17

Intussusception describes the invagination of one portion of bowel into the lumen of the adjacent bowel, most commonly around the ileo-caecal region. Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls Features paroxysmal abdominal colic pain during paroxysm the infant will characteristically draw their knees up and turn pale vomiting bloodstained stool - 'red-currant jelly' - is a late sign sausage-shaped mass in the right upper quadrant Investigation ultrasound is now the investigation of choice and may show a target-like mass Management the majority of children can be treated with reduction by air insufflation under radiological control, which is now widely used first-line compared to the traditional barium enema if this fails, or the child has signs of peritonitis, surgery is performed

Answer 18

Developmental dysplasia of the hip (DDH) is gradually replacing the old term 'congenital dislocation of the hip' (CDH). It affects around 1-3% of newborns. ``` Risk factors female sex: 6 times greater risk breech presentation positive family history firstborn children oligohydramnios birth weight > 5 kg congenital calcaneovalgus foot deformity ``` DDH is slightly more common in the left hip. Around 20% of cases are bilateral. Screening for DDH the following infants require a routine ultrasound examination first-degree family history of hip problems in early life breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery multiple pregnancy all infants are screened at both the newborn check and also the six-week baby check using the Barlow and Ortolani tests Clinical examination Barlow test: attempts to dislocate an articulated femoral head Ortolani test: attempts to relocate a dislocated femoral head other important factors include: symmetry of leg length level of knees when hips and knees are bilaterally flexed restricted abduction of the hip in flexion Imaging ultrasound is generally used to confirm the diagnosis if clinically suspected however, if the infant is > 4.5 months then x-ray is the first line investigation Management most unstable hips will spontaneously stabilise by 3-6 weeks of age Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months older children may require surgery

Answer 19

General management points disposable nappies are preferable to towel nappies expose napkin area to air when possible apply barrier cream (e.g. Zinc and castor oil) mild steroid cream (e.g. 1% hydrocortisone) in severe cases management of suspected candidal nappy rash is with a topical imidazole. Cease the use of a barrier cream until the candida has settled

Answer 20

Vesicoureteric reflux (VUR) is the abnormal backflow of urine from the bladder into the ureter and kidney. It is a relatively common abnormality of the urinary tract in children and predisposes to urinary tract infection (UTI), being found in around 30% of children who present with a UTI. As around 35% of children develop renal scarring it is important to investigate for VUR in children following a UTI Pathophysiology of VUR ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle therefore shortened intramural course of the ureter vesicoureteric junction cannot, therefore, function adequately Possible presentations antenatal period: hydronephrosis on ultrasound recurrent childhood urinary tract infections reflux nephropathy term used to describe chronic pyelonephritis secondary to VUR commonest cause of chronic pyelonephritis renal scar may produce increased quantities of renin causing hypertension Investigation VUR is normally diagnosed following a micturating cystourethrogram a DMSA scan may also be performed to look for renal scarring The table below summarises the grading of VUR

Answer 21

Febrile convulsions are seizures provoked by fever in otherwise normal children. They typically occur between the ages of 6 months and 5 years and are seen in 3% of children. Clinical features usually occur early in a viral infection as the temperature rises rapidly seizures are usually brief, lasting less than 5 minutes are most commonly tonic-clonic Management following a seizure children who have had a first seizure OR any features of a complex seizure should be admitted to paediatrics Prognosis the overall risk of further febrile convulsion = 1 in 3. However, this varies widely depending on risk factors for further seizure. These include: age of onset < 18 months, fever < 39ºC, shorter duration of fever before seizure and a family history of febrile convulsions if recurrences, try teaching parents how to use rectal diazepam or buccal midazolam. Parents should be advised to phone for an ambulance if the seizure lasts > 5 minutes regular antipyretics have not been shown to reduce the chance of a febrile seizure occurring Link to epilepsy risk factors for developing epilepsy include a family history of epilepsy, having complex febrile seizures and a background of neurodevelopmental disorder children with no risk factors have 2.5% risk of developing epilepsy if children have all 3 features the risk of developing epilepsy is much higher (e.g. 50%)

Answer 22

Cleft lip and palate affect around 1 in every 1,000 babies. They are the most common congenital deformity affecting the orofacial structures. Whilst they may be an isolated developmental malformation they are also a recognised component of more than 200 birth defects. The commonest variants are: isolated cleft lip (15%) isolated cleft palate (40%) combined cleft lip and palate (45%) Pathophysiology polygenic inheritance maternal antiepileptic use increases risk cleft lip results from failure of the fronto-nasal and maxillary processes to fuse cleft palate results from failure of the palatine processes and the nasal septum to fuse Problems feeding: orthodontic devices may be helpful speech: with speech therapy 75% of children develop normal speech increased risk of otitis media for cleft palate babies Management cleft lip is repaired earlier than cleft palate, with practices varying from repair in the first week of life to three months cleft palates are typically repaired between 6-12 months of age

Answer 23

Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs It is more common following caesarean sections, possibly due to the lung fluid not being 'squeezed out' during the passage through the birth canal Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure. Management observation, supportive care supplementary oxygen may be required to maintain oxygen saturations Transient tachypnoea of the newborn usually settles within 1-2 days

Answer 24

William's syndrome is an inherited neurodevelopmental disorder caused by a microdeletion on chromosome 7 ``` Features elfin-like facies characteristic like affect - very friendly and social learning difficulties short stature transient neonatal hypercalcaemia supravalvular aortic stenosis ``` Diagnosis is made by FISH studies elfin facies strabismus broad forehead short stature

Answer 25

dilated cardiomyopathy

Answer 26

Transient tachypnoea of the newborn (TTN) is the commonest cause of respiratory distress in the newborn period. It is caused by delayed resorption of fluid in the lungs It is more common following caesarean sections, possibly due to the lung fluid not being 'squeezed out' during the passage through the birth canal Chest x-ray may show hyperinflation of the lungs and fluid in the horizontal fissure. Management observation, supportive care supplementary oxygen may be required to maintain oxygen saturations Transient tachypnoea of the newborn usually settles within 1-2 days

Answer 27

peak incidence of 2-5 years affects slightly more boys than girls and accounts for 80% of childhood leukaemias. It is the most common malignancy affecting children. There is not a strong family correlation, although some genetic disorders, such as Down's syndrome, increase the likelihood of developing the disease.

Answer 28

The GMC guidance on consent in children is extensive. In short, when a child lacks capacity, consent from one parent is sufficient to administer treatment as long as it is in the best interests of the child. Additionally, though Dawn may lack capacity, encouraging her involvement in the decision-making process is important.

Answer 29

Investigations ``` Contraindication to lumbar puncture (any signs of raised ICP) focal neurological signs papilloedema significant bulging of the fontanelle disseminated intravascular coagulation signs of cerebral herniation ``` For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.

Answer 30

(any signs of raised ICP) ``` focal neurological signs papilloedema significant bulging of the fontanelle disseminated intravascular coagulation signs of cerebral herniation ``` For patients with meningococcal septicaemia a lumbar puncture is contraindicated - blood cultures and PCR for meningococcus should be obtained.

Answer 31

1. Antibiotics < 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime > 3 months: IV cefotaxime (or ceftriaxone) 2. Steroids NICE advise against giving corticosteroids in children younger than 3 months dexamethsone should be considered if the lumbar puncture reveals any of the following: frankly purulent CSF CSF white blood cell count greater than 1000/microlitre raised CSF white blood cell count with protein concentration greater than 1 g/litre bacteria on Gram stain 3. Fluids treat any shock, e.g. with colloid 4. Cerebral monitoring mechanical ventilation if respiratory impairment 5. Public health notification and antibiotic prophylaxis of contacts ciprofloxacin is now preferred over rifampicin

Answer 32

- extremely common helminths in children - infection occurs via the ingestion of eggs present in the environment - asymptomatic but it can cause perianal itching, particularly at night - Most patients are treated empirically without having to confirm the diagnosis, with hygiene suggestions and mebendazole. Infestation with threadworms (Enterobius vermicularis, sometimes called pinworms) is extremely common amongst children in the UK. Infestation occurs after swallowing eggs that are present in the environment. Threadworm infestation is asymptomatic in around 90% of cases, possible features include: perianal itching, particularly at night girls may have vulval symptoms Diagnosis may be made by the applying Sellotape to the perianal area and sending it to the laboratory for microscopy to see the eggs. However, most patients are treated empirically and this approach is supported in the CKS guidelines. Management CKS recommend a combination of anthelmintic with hygiene measures for all members of the household mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists

Answer 33

Capacity is time and decision dependent. If in the past the patient has not had capacity to make a decision, but today for this decision you feel she has, the only consent you need is from her.

Answer 34

- medium vessel vasculitis Features: - high-grade fever last >5days (resistant to antipyretics) - conjunctival infection - bright red, cracked lips - strawberry tongue cervical lymphadenopathy - red palms of the hand and the soles of the fee which later peels Management high-dose aspirin Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye's syndrome aspirin is normally contraindicated in children intravenous immunoglobulin echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms

Answer 35

Urinary tract infections (UTI) are more common in boys until 3 months of age (due to more congenital abnormalities) after which the incidence is substantially higher in girls. At least 8% of girls and 2% of boys will have a UTI in childhood

Answer 36

Presentation in childhood depends on age: infants: poor feeding, vomiting, irritability younger children: abdominal pain, fever, dysuria older children: dysuria, frequency, haematuria features which may suggest an upper UTI include: temperature > 38ºC, loin pain/tenderness

Answer 37

If there are any symptoms or signs suggestive or a UTI with unexplained fever of 38°C or higher (test urine after 24 hours at the latest) with an alternative site of infection but who remain unwell (consider urine test after 24 hours at the latest)

Answer 38

clean catch is preferable if not possible then urine collection pads should be used cotton wool balls, gauze and sanitary towels are not suitable invasive methods such as suprapubic aspiration should only be used if non-invasive methods are not possible

Answer 39

infants less than 3 months old should be referred immediately to a paediatrician children aged more than 3 months old with an upper UTI should be considered for admission to hospital. If not admitted oral antibiotics such as cephalosporin or co-amoxiclav should be given for 7-10 days children aged more than 3 months old with a lower UTI should be treated with oral antibiotics for 3 days according to local guidelines, usually trimethoprim, nitrofurantoin, cephalosporin or amoxicillin. Parents should be asked to bring the children back if they remain unwell after 24-48 hours antibiotic prophylaxis is not given after the first UTI but should be considered with recurrent UTIs

Answer 40

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 41

caused by pressure on the fetal scalp during the birthing process. It results in a large oedematous swelling and bruising over the scalp. Treatment is not required as the swelling reduces over a few days.

Answer 42

occur after a spontaneous vaginal delivery or following a trauma from the obstetric forceps or the ventouse. A haemorrhage results after the presidium is sheared from the parietal bone. The tense swelling is limited to the outline of the bone. It reduces over a few weeks - months.

Answer 43

subgaleal haemorrhage is rare and is due to a traumatic birth. It may result in the infant losing large amounts of blood

Answer 44

subarachnoid, subdural or intraventricular haemorrhages Subarachnoid haemorrhages are common and may cause irritability and even convulsions over the first 2 days of life Subdural can following the use of forceps. Intraventricular haemorrhage mostly affects pre-term infants and can be diagnosed by ultrasound examinations.

Answer 45

- development of secondary sexual characteristics before 8 years in females and 9 years in males - more common in females May be classified into: 1. Gonadotrophin dependent ('central', 'true') due to premature activation of the hypothalamic-pituitary-gonadal axis FSH & LH raised 2. Gonadotrophin independent ('pseudo', 'false') due to excess sex hormones FSH & LH low

Answer 46

Newborn resuscitation 1. Dry baby and maintain temperature 2. Assess tone, respiratory rate, heart rate 3. If gasping or not breathing give 5 inflation breaths* 4. Reassess (chest movements) 5. If the heart rate is not improving and <60bpm start compressions and ventilation breaths at a rate of 3:1

Answer 47

Newborn - otoacoustic emission test Newborn and infant - auditory brainstem response 6-9 months - distraction test 18 months - 2.5 years - recognition of familiar objects >2.5 years - performance testing >2.5 y - speech discrimination test >3 years - Pure tine audiometry

Answer 48

Newly diagnosed asthma - short acting beta agonist (SABA) - Not controlled on previous step or newly diagnosed with greater than or equal to 3 asthma episodes per week or night time symptoms - SABA + Low dose inhaled corticosteroid (ICS) - SABA + paediatric low dose ICS + leukotriene receptor anatgonist - SABA + paediatric low dose ICS + long acting beta agonist

Answer 49

Pyloric stenosis typically presents in the second to fourth weeks of life with vomiting, although rarely may present later at up to four months. It is caused by hypertrophy of the circular muscles of the pylorus. ``` Epidemiology incidence of 4 per 1,000 live births 4 times more common in males 10-15% of infants have a positive family history first-borns are more commonly affected ``` Features 'projectile' vomiting, typically 30 minutes after a feed constipation and dehydration may also be present a palpable mass may be present in the upper abdomen hypochloraemic, hypokalaemic alkalosis due to persistent vomiting Diagnosis is most commonly made by ultrasound. Management is with Ramstedt pyloromyotomy.

Answer 50

first sign is breast development at around 11.5 years of age (range = 9-13 years) height spurt reaches its maximum early in puberty (at 12) , before menarche menarche at 13 (11-15) there is an increase of only about 4% of height following menarche

Answer 51

first sign is testicular growth at around 12 years of age (range = 10-15 years) testicular volume > 4 ml indicates onset of puberty maximum height spurt at 14

Answer 52

gynaecomastia may develop in boys asymmetrical breast growth may occur in girls diffuse enlargement of the thyroid gland may be seen

Answer 53

Autism is a neurodevelopmental condition characterized by qualitative impairment in social interaction and communication as well as repetitive stereotyped behaviour, interests, and activities. Symptoms are usually present during early childhood, but may be manifested later. Autism spectrum disorder (ASD) may occur in association with any level of general intellectual/learning ability, and manifestations range from subtle problems of understanding and impaired social function to severe disabilities. Although there is no cure for ASD, early diagnosis and intensive educational and behavioural management may improve outcomes.

Answer 54

Children or adults with autism may exhibit a broad range of clinical manifestations. Social communication impairments and repetitive behaviours are present during early childhood (typically evident before 2–3 years of age), or maybe manifested later. The clinical features can be classified as: Impaired social communication and interaction: Children frequently play alone and maybe relatively uninterested in being with other children. They may fail to regulate social interaction with nonverbal cues like eye gaze, facial expression, and gestures. Fail to form and maintain appropriate relationships and become socially isolated. Repetitive behaviours, interests, and activities: Stereotyped and repetitive motor mannerisms, inflexible adherence to nonfunctional routines or rituals are often seen. Children are noted to have particular ways of going about everyday activities. ASD is often associated with intellectual impairment or language impairment. Attention deficit hyperactivity disorder (35%) and epilepsy (18%) are also commonly seen in children with ASD. ASD is also associated with a higher head circumference to the brain volume ratio.

Answer 55

Autism spectrum disorder (ASD) is a chronic condition that requires a comprehensive treatment approach. Although there is no cure for ASD, early diagnosis and early intensive treatment have the potential to affect outcomes. Treatment, which should be initiated early, involves educational and behavioural management, medical therapy, and family counselling. The goal is to increase functional independence and quality of life through Learning and development, improved social skills, and improved communication Decreased disability and comorbidity Aid to families Non-Pharmacological Therapy: Early educational and behavioural interventions: Applied behavioural analysis (ABA). ASD preschool program. Treatment and Education of Autistic and Communication related handicapped CHildren (TEACCH)/Structured Teaching method. Early Start Denver Model (ESDM). Joint Attention Symbolic Play Engagement and Regulation (JASPER). Pharmacologic interventions: no consistent evidence demonstrating medication-mediated improvements in social communication SSRIs: helpful to reduce symptoms like repetitive stereotyped behaviour, anxiety, and aggression Antipsychotic drugs: useful to reduce symptoms like aggression, self-injury. Methylphenidate: for attention deficit hyperactivity disorder (ADHD). Family support and counselling: Parental education on interaction with the child and acceptance of his/her behaviour.

Answer 56

a heart defect that affects the normal flow of blood.

Answer 57

a heart defect that affects the normal flow of blood.

Answer 58

``` ventricular septal defects (VSD) - most common, accounts for 30% atrial septal defect (ASD) patent ductus arteriosus (PDA) coarctation of the aorta aortic valve stenosis ```

Answer 59

tetralogy of Fallot transposition of the great arteries (TGA) tricuspid atresia

Answer 60

Measles is now rarely seen in the developed world following the adoption of immunisation programmes. Outbreaks are occasionally seen, particularly when vaccinations rates drop, for example after the MMR controversy of the early 2000s. ``` Overview RNA paramyxovirus spread by droplets infective from prodrome until 4 days after rash starts incubation period = 10-14 days ``` Features prodromal phase irritable conjunctivitis fever Koplik spots typically develop before the rash white spots ('grain of salt') on the buccal mucosa rash starts behind ears then to the whole body discrete maculopapular rash becoming blotchy & confluent desquamation that typically spares the palms and soles may occur after a week diarrhoea occurs in around 10% of patients Investigations IgM antibodies can be detected within a few days of rash onset Management mainly supportive admission may be considered in immunosuppressed or pregnant patients notifiable disease → inform public health Complications otitis media: the most common complication pneumonia: the most common cause of death encephalitis: typically occurs 1-2 weeks following the onset of the illness) subacute sclerosing panencephalitis: very rare, may present 5-10 years following the illness febrile convulsions keratoconjunctivitis, corneal ulceration diarrhoea increased incidence of appendicitis myocarditis

Answer 61

mmune (or idiopathic) thrombocytopenic purpura (ITP) is an immune-mediated reduction in the platelet count. Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction. ITP in children is typically more acute than in adults and may follow an infection or vaccination. Features bruising petechial or purpuric rash bleeding is less common and typically presents as epistaxis or gingival bleeding Investigation full blood count should demonstrate an isolated thrombocytopenia blood film bone marrow examinations is only required if there are atypical features e.g. lymph node enlargement/splenomegaly, high/low white cells failure to resolve/respond to treatment Management usually, no treatment is required ITP resolves in around 80% of children with 6 months, with or without treatment advice to avoid activities that may result in trauma (e.g. team sports) other options may be indicated if the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding. Options include: oral/IV corticosteroid IV immunoglobulins platelet transfusions can be used in an emergency (e.g. active bleeding) but are only a temporary measure as they are soon destroyed by the circulating antibodies

Answer 62

- serious infection caused by Haemophilus influenzae type B - Prompt recognition and treatment is essential as airway obstruction may develop ``` Features rapid onset high temperature, generally unwell stridor drooling of saliva 'tripod' position: the patient finds it easier to breathe if they are leaning forward and extending their neck in a seated position ``` Diagnosis is made by direct visualisation (only by senior/airway trained staff, see below). However, x-rays may be done, particularly if there is concern about a foreign body: a lateral view in acute epiglottis will show swelling of the epiglottis - the 'thumb sign' in contrast, a posterior-anterior view in croup will show subglottic narrowing, commonly called the 'steeple sign' Management immediate senior involvement, including those able to provide emergency airway support (e.g. anaesthetics, ENT) endotracheal intubation may be necessary to protect the airway if suspected do NOT examine the throat due to the risk of acute airway obstruction the diagnosis is made by direct visualisation but this should only be done by senior staff who are able to intubate if necessary oxygen intravenous antibiotics

Answer 63

Neonatal blood spot screening (previously called the Guthrie test or 'heel-prick test') is performed at 5-9 days of life The following conditions are currently screened for: congenital hypothyroidism cystic fibrosis sickle cell disease phenylketonuria medium chain acyl-CoA dehydrogenase deficiency (MCADD) maple syrup urine disease (MSUD) isovaleric acidaemia (IVA) glutaric aciduria type 1 (GA1) homocystinuria (pyridoxine unresponsive) (HCU)

Answer 64

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years. Features high fever: lasting a few days, followed later by a maculopapular rash Nagayama spots: papular enanthem on the uvula and soft palate febrile convulsions occur in around 10-15% diarrhoea and cough are also commonly seen Other possible consequences of HHV6 infection aseptic meningitis hepatitis School exclusion is not needed.

Answer 65

Pathophysiology: - acute bronchiolar inflammation - Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases Epidemiology - most common cause of a serious lower respiratory tract infection in < 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). - Maternal IgG provides protection to newborns against RSV higher incidence in winter Basics respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases other causes: mycoplasma, adenoviruses may be secondary bacterial infection more serious if bronchopulmonary dysplasia (e.g. Premature), congenital heart disease or cystic fibrosis Features coryzal symptoms (including mild fever) precede: dry cough increasing breathlessness wheezing, fine inspiratory crackles (not always present) feeding difficulties associated with increasing dyspnoea are often the reason for hospital admission NICE recommend immediate referral (usually by 999 ambulance) if they have any of the following: apnoea (observed or reported) child looks seriously unwell to a healthcare professional severe respiratory distress, for example grunting, marked chest recession, or a respiratory rate of over 70 breaths/minute central cyanosis persistent oxygen saturation of less than 92% when breathing air. NICE recommend that clinicians 'consider' referring to hospital if any of the following apply: a respiratory rate of over 60 breaths/minute difficulty with breastfeeding or inadequate oral fluid intake (50-75% of usual volume 'taking account of risk factors and using clinical judgement') clinical dehydration. Investigation immunofluorescence of nasopharyngeal secretions may show RSV Management is largely supportive humidified oxygen is given via a head box and is typically recommended if the oxygen saturations are persistently < 92% nasogastric feeding may be needed if children cannot take enough fluid/feed by mouth suction is sometimes used for excessive upper airway secretions

Answer 66

respiratory rate above 60 per minute the presence of grunting heart rate below 100 or above 160 beats/minute capillary refill time above 3 seconds temperature of 38°C or above, or 37.5°C on 2 occasions 30 minutes apart oxygen saturation below 95% presence of central cyanosis

Answer 67

The frequency at which children open their bowels varies widely but generally decreases with age from a mean of 3 times per day for infants under 6 months old to once a day after 3 years of age.

Answer 68

Stool pattern: Fewer than 3 complete stools per week (type 3 or 4 on Bristol Stool Form Scale) (this does not apply to exclusively breastfed babies after 6 weeks of age), Hard large stool, 'Rabbit droppings' (type 1) Symptoms associated with defecation: Distress on passing stool Bleeding associated with hard stool, Straining History: Previous episode(s) of constipation, Previous or current anal fissure

Answer 69

``` Stool pattern: Fewer than 3 complete stools per week (type 3 or 4) Overflow soiling (commonly very loose, very smelly, stool passed without sensation), 'Rabbit droppings' (type 1), Large, infrequent stools that can block the toilet ``` Symptoms associated with defecation Poor appetite that improves with passage of large stool Waxing and waning of abdominal pain with passage of stool Evidence of retentive posturing: typical straight-legged, tiptoed, back arching posture Straining Anal pain history Previous episode(s) of constipation Previous or current anal fissure Painful bowel movements and bleeding associated with hard stools

Answer 70

hypochloremic, hypokalaemic alkalosis

Answer 71

Fever Maculopapular rash Koplik spot (white papules on the buccal mucosa that often present before the rash)

Answer 72

Whooping cough (pertussis) is an infectious disease caused by the Gram-negative bacterium Bordetella pertussis. It typically presents in children. There are around 1,000 cases are reported each year in the UK. Immunisation infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations

Answer 73

Features, 2-3 days of coryza precede onset of: coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis inspiratory whoop: not always present (caused by forced inspiration against a closed glottis) infants may have spells of apnoea persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures symptoms may last 10-14 weeks* and tend to be more severe in infants marked lymphocytosis Diagnostic criteria Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features: Paroxysmal cough. Inspiratory whoop. Post-tussive vomiting. Undiagnosed apnoeic attacks in young infants.

Answer 74

Management infants under 6 months with suspect pertussis should be admitted in the UK pertussis is a notifiable disease an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread household contacts should be offered antibiotic prophylaxis antibiotic therapy has not been shown to alter the course of the illness school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics ) ``` Complications subconjunctival haemorrhage pneumonia bronchiectasis seizures ```

Answer 75

- caused by an aganglionic segment of bowel due to a developmental failure of the parasympathetic Auerbach and Meissner plexuses - although rare (occurring in 1 in 5,000 births) it is an important differential diagnosis in childhood constipation Pathophysiology parasympathetic neuroblasts fail to migrate from the neural crest to the distal colon → developmental failure of the parasympathetic Auerbach and Meissner plexuses → uncoordinated peristalsis → functional obstruction Associations 3 times more common in males Down's syndrome Possible presentations neonatal period e.g. failure or delay to pass meconium older children: constipation, abdominal distension Investigations abdominal x-ray rectal biopsy: gold standard for diagnosis Management initially: rectal washouts/bowel irrigation definitive management: surgery to affected segment of the colon

Answer 76

Gastro-oesophageal reflux is the commonest cause of vomiting in infancy. Around 40% of infants regurgitate their feeds to a certain extent so there is a degree of overlap with normal physiological processes. Risk factors - preterm delivery - neurological disorders Features - typically develops before 8 weeks - vomiting/regurgitation following feeds Diagnosis is usually made clinically Management (partly based on the 2015 NICE guidelines) advise regarding position during feeds - 30 degree head-up infants should sleep on their backs as per standard guidance to reduce the risk of cot death ensure infant is not being overfed (as per their weight) and consider a trial of smaller and more frequent feeds a trial of thickened formula (for example, containing rice starch, cornstarch, locust bean gum or carob bean gum) a trial of alginate therapy e.g. Gaviscon. Alginates should not be used at the same time as thickening agents NICE do not recommend a proton pump inhibitor (PPI) to treat overt regurgitation in infants and children occurring as an isolated symptom. A trial of one of these agents should be considered if 1 or more of the following apply: unexplained feeding difficulties (for example, refusing feeds, gagging or choking) distressed behaviour faltering growth ranitidine was previously used as an alternative to a PPI but was withdrawn from the market in 2020 as small amounts of the carcinogen N-nitrosodimethylamine (NDMA) were discovered in products from a number of manufacturers. prokinetic agents e.g. metoclopramide should only be used with specialist advice ``` Complications distress failure to thrive aspiration frequent otitis media in older children dental erosion may occur ``` If there are severe complications (e.g. failure to thrive) and medical treatment is ineffective then fundoplication may be considered

Answer 77

Cow's milk protein intolerance/allergy (CMPI/CMPA) occurs in around 3-6% of all children and typically presents in the first 3 months of life in formula-fed infants, although rarely it is seen in exclusively breastfed infants. Both immediate (IgE mediated) and delayed (non-IgE mediated) reactions are seen. The term CMPA is usually used for immediate reactions and CMPI for mild-moderate delayed reactions. ``` Features regurgitation and vomiting diarrhoea urticaria, atopic eczema 'colic' symptoms: irritability, crying wheeze, chronic cough rarely angioedema and anaphylaxis may occur ``` Diagnosis is often clinical (e.g. improvement with cow's milk protein elimination). Investigations include: skin prick/patch testing total IgE and specific IgE (RAST) for cow's milk protein

Answer 78

If the symptoms are severe (e.g. failure to thrive) refer to a paediatrician. Management if formula-fed extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF around 10% of infants are also intolerant to soya milk Management if breastfed continue breastfeeding eliminate cow's milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months

Answer 79

CMPI usually resolves in most children in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years a challenge is often performed in the hospital setting as anaphylaxis can occur.

Answer 80

...intestinal malrotation and volvulus. An urgent upper GI contrast study and ultrasound is required.

Answer 81

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years. Features high fever: lasting a few days, followed later by a maculopapular rash Nagayama spots: papular enanthem on the uvula and soft palate febrile convulsions occur in around 10-15% diarrhoea and cough are also commonly seen Other possible consequences of HHV6 infection aseptic meningitis hepatitis School exclusion is not needed.

Answer 82

This is a genetic condition caused by a deletion on chromosome seven. It is associated with aortic stenosis, but patients typically present with intellectual disability, underdeveloped cheeks, short noses, broad foreheads, and a happy affect. While this patient's presentation hints at a genetic condition, it points towards Turner's syndrome rather than William's syndrome.

Answer 83

- failure of the vitelline duct to obliterate during the fifth week of fetal development - typically occurs just two feet proximal to the ileocaecal valve, so the pain can mimic classic appendicitis pain. - The patient is hemodynamically unstable, indicating that he is suffering from a substantial haemorrhage, confirmed by rectal bleeding. - Despite being the most common cause of transfusion for children between 1 and 2 years old, many patients are often asymptomatic

Answer 84

Ejection systolic murmurs can be due to bicuspid aortic valves

Answer 85

a respiratory rate of over 60 breaths/minute difficulty with breastfeeding or inadequate oral fluid intake (50–75% of usual volume, taking account of risk factors [see recommendation 1.3.3] and using clinical judgement) clinical dehydration

Answer 86

birth traumas that occur after use of a ventouse device during delivery

Answer 87

caesarean section or instrumental delivery

Answer 88

Non-weight bearing - 1 point Fever >38.5ºC - 1 point WCC >12 * 109/L - 1 point ESR >40mm/hr The probabilities are calculated thus: 0 points = very low risk 1 point = 3% probability of septic arthritis 2 points = 40% probability of septic arthritis 3 points = 93% probability of septic arthritis 4 points = 99% probability of septic arthritis

Answer 89

Infantile colic describes a relatively common and benign set of symptoms seen in young infants. It typically occurs in infants less than 3 months old and is characterised by bouts of excessive crying and pulling-up of the legs, often worse in the evening. Infantile colic occurs in up to 20% of infants. The cause of infantile colic is unknown. NICE Clinical Knowledge Summaries do not recommend the use of simeticone (such as Infacol®) or lactase (such as Colief®) drops.

Answer 90

``` prone sleeping parental smoking bed sharing hyperthermia and head covering prematurity ```

Answer 91

The British Association of Paediatric Urologists states that if the issue is a non-retractile foreskin and/or ballooning during micturition in a child under two, an expectant approach should be taken in case this is physiological phimosis which will resolve in time. Forcible retraction can result in scar formation so should be avoided. Personal hygiene is important. If the child is over 2 years of age and has recurrent balanoposthitis or urinary tract infection then treatment can be considered.

Answer 92

Perthes' disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction. Perthes' disease is 5 times more common in boys. Around 10% of cases are bilateral Features hip pain: develops progressively over a few weeks limp stiffness and reduced range of hip movement x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening Diagnosis plain x-ray technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist Complications osteoarthritis premature fusion of the growth plates

Answer 93

Pavlik harness

Answer 94

Serial casting

Answer 95

Steroid injection

Answer 96

This syndrome encompasses the triad of retinal haemorrhages, subdural haematoma, and encephalopathy. This is caused by the intentional shaking of a child (0-5 years old). The diagnosis of shaken baby syndrome has often made the headlines due to the controversy amongst physicians as to whether the mechanism of injury is definitely an intentional shaking of a child. This has often resulted in difficulty for the courts to convict suspects of causing shaken baby syndrome to a child.

Answer 97

Overview a form of congenital heart defect generally classed as 'acyanotic'. However, uncorrected can eventually result in late cyanosis in the lower extremities, termed differential cyanosis connection between the pulmonary trunk and descending aorta usually, the ductus arteriosus closes with the first breaths due to increased pulmonary flow which enhances prostaglandins clearance more common in premature babies, born at high altitude or maternal rubella infection in the first trimester

Answer 98

indomethacin is given to the neonate in the postnatal period, not to the mother in the antenatal period

Answer 99

Osgood-Schlatter disease (tibial apophysitis) is a type of osteochondrosis characterised by inflammation at the tibial tuberosity. It is a traction apophysitis thought to be caused by repeated avulsion of the apophysis into which the patellar tendon is inserted Management is supportive

Answer 100

Gastroschisis and exomphalos

Answer 101

Gastroschisis describes a congenital defect in the anterior abdominal wall just lateral to the umbilical cord. Management vaginal delivery may be attempted newborns should go to theatre as soon as possible after delivery, e.g. within 4 hours

Answer 102

In exomphalos (also known as an omphalocoele) the abdominal contents protrude through the anterior abdominal wall but are covered in an amniotic sac formed by amniotic membrane and peritoneum. Associations Beckwith-Wiedemann syndrome Down's syndrome cardiac and kidney malformations Management caesarean section is indicated to reduce the risk of sac rupture a staged repair may be undertaken as primary closure may be difficult due to lack of space/high intra-abdominal pressure if this occurs the sacs is allowed to granulate and epithelialise over the coming weeks/months this forms a 'shell' as the infant grows a point will be reached when the sac contents can fit within the abdominal cavity. At this point the shell will be removed and the abdomen closed

Answer 103

Seborrhoeic dermatitis is a relatively common skin disorder seen in children. It typically affects the scalp ('Cradle cap'), nappy area, face and limb flexures. Cradle cap is an early sign which may develop in the first few weeks of life. It is characterised by an erythematous rash with coarse yellow scales. Management depends on severity mild-moderate: baby shampoo and baby oils severe: mild topical steroids e.g. 1% hydrocortisone Seborrhoeic dermatitis in children tends to resolve spontaneously by around 8 months of age

Answer 104

Mesenteric adenitis is inflamed lymph nodes within the mesentery. It can cause similar symptoms to appendicitis and can be difficult to distinguish between the two. It often follows a recent viral infection and needs no treatment

Answer 105

The 2015 Resuscitation Council guidelines made the following changes to paediatric basic life support compression:ventilation ratio: lay rescuers should use a ratio of 30:2. If there are two or more rescuers with a duty to respond then a ratio of 15:2 should be used age definitions: an infant is a child under 1 year, a child is between 1 year and puberty Key points of algorithm (please see link attached for more details) unresponsive? shout for help open airway look, listen, feel for breathing give 5 rescue breaths check for signs of circulation infants use brachial or femoral pulse, children use femoral pulse 15 chest compressions:2 rescue breaths (see above) chest compressions should be 100-120/min for both infants and children depth: depress the lower half of the sternum by at least one-third of the anterior–posterior dimension of the chest (which is approximately 4 cm for an infant and 5 cm for a child) in children: compress the lower half of the sternum in infants: use a two-thumb encircling technique for chest compression

Answer 106

Perthes' disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years. It is due to avascular necrosis of the femoral head, specifically the femoral epiphysis. Impaired blood supply to the femoral head causes bone infarction. Perthes' disease is 5 times more common in boys. Around 10% of cases are bilateral Features hip pain: develops progressively over a few weeks limp stiffness and reduced range of hip movement x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening Diagnosis plain x-ray technetium bone scan or magnetic resonance imaging if normal x-ray and symptoms persist Complications osteoarthritis premature fusion of the growth plates

Answer 107

Gram-negative bacterium Bordetella pertussis Immunisation infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations Features, 2-3 days of coryza precede onset of: coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis inspiratory whoop: not always present (caused by forced inspiration against a closed glottis) infants may have spells of apnoea persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures symptoms may last 10-14 weeks* and tend to be more severe in infants marked lymphocytosis Diagnostic criteria Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features: Paroxysmal cough. Inspiratory whoop. Post-tussive vomiting. Undiagnosed apnoeic attacks in young infants.

Answer 108

Gram-negative bacterium Bordetella pertussis Immunisation infants are routinely immunised at 2, 3, 4 months and 3-5 years. Newborn infants are particularly vulnerable, which is why the vaccination campaign for pregnant women was introduced neither infection nor immunisation results in lifelong protection - hence adolescents and adults may develop whooping cough despite having had their routine immunisations Features, 2-3 days of coryza precede onset of: coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis inspiratory whoop: not always present (caused by forced inspiration against a closed glottis) infants may have spells of apnoea persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures symptoms may last 10-14 weeks* and tend to be more severe in infants marked lymphocytosis Diagnostic criteria Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features: Paroxysmal cough. Inspiratory whoop. Post-tussive vomiting. Undiagnosed apnoeic attacks in young infants.

Answer 109

Meconium aspiration syndrome refers to respiratory distress in the newborn as a result of meconium in the trachea. It occurs in the immediate neonatal period. It is more common in post-term deliveries, with rates of up to 44% reported in babies born after 42 weeks. It causes respiratory distress, which can be severe. Higher rates occur where there is a history of maternal hypertension, pre-eclampsia, chorioamnionitis, smoking or substance abuse.

Answer 110

Trinucleotide repeat disorders are genetic conditions caused by an abnormal number of repeats (expansions) of a repetitive sequence of three nucleotides. These expansions are unstable and may enlarge which may lead to an earlier age of onset in successive generations - a phenomenon known as anticipation*. In most cases, an increase in the severity of symptoms is also noted ``` Examples - note dominance of neurological disorders Fragile X (CGG) Huntington's (CAG) myotonic dystrophy (CTG) Friedreich's ataxia* (GAA) spinocerebellar ataxia spinobulbar muscular atrophy dentatorubral pallidoluysian atrophy ``` *Friedreich's ataxia is unusual in not demonstrating anticipation

Answer 111

Newborn babies are relatively deficient in vitamin K. This may result in impaired production of clotting factors which in turn can lead to haemorrhagic disease of the newborn (HDN). Bleeding may range from minor brushing to intracranial haemorrhages Breast-fed babies are particularly at risk as breast milk is a poor source of vitamin K. Maternal use of antiepileptics also increases the risk Because of this all newborns in the UK are offered vitamin K, either intramuscularly or orally

Answer 112

Located in the anterior triangle, usually in the midline and below the hyoid (65% cases) Derived from remnants of the thyroglossal duct Thin walled and anechoic on USS (echogenicity suggests infection of cyst

Answer 113

Six branchial arches separated by branchial clefts Incomplete obliteration of the branchial apparatus may result in cysts, sinuses or fistulae 75% of branchial cysts originate from the second branchial cleft Usually located anterior to the sternocleidomastoid near the angle of the mandible Unless infected the fluid of the cyst has a similar consistency to water and is anechoic on USS

Answer 114

Derived from pleuripotent stem cells and are located in the midline Most commonly in a suprahyoid location They have heterogeneous appearances on imaging and contain variable amounts of calcium and fat

Answer 115

true thyroid lesions are rare in children and usually represent thyroglossal cysts or tumours like lymphoma

Answer 116

Usually located posterior to the sternocleidomastoid Cystic hygroma result from occlusion of lymphatic channels The painless, fluid filled, lesions usually present prior to the age of 2 They are often closely linked to surrounding structures and surgical removal is difficult They are typically hypoechoic on USS

Answer 117

May present in either triangle of the neck Grow rapidly initially and then will often spontaneously regress Plain x-rays will show a mass lesion, usually containing calcified phleboliths As involution occurs the fat content of the lesions increases

Answer 118

Located in either triangle of the neck May be reactive or neoplastic Generalised lymphadenopathy usually secondary to infection in children (very common)

Answer 119

Umbilical hernia are relatively common in children and may be found during the newborn exam. Usually no treatment is required as they typically resolve by 3 years of age Associations Afro-Caribbean infants Down's syndrome mucopolysaccharide storage diseases

Answer 120

Up to 20% of neonates may have an umbilical hernia, it is more common in premature infants. The majority of these hernias will close spontaneously (may take between 12 months and three years). Strangulation is rare.

Answer 121

These are due to defects in the linea alba that are in close proximity to the umbilicus. The edges of a paraumbilical hernia are more clearly defined than those of an umbilical hernia. They are less likely to resolve spontaneously than an umbilical hernia.

Answer 122

This condition consists of an infection of the umbilicus. Infection with Staphylococcus aureus is the commonest cause. The condition is potentially serious as infection may spread rapidly through the umbilical vessels in neonates with a risk of portal pyaemia, and portal vein thrombosis. Treatment is usually with a combination of topical and systemic antibiotics.

Answer 123

These consist of cherry red lesions surrounding the umbilicus, they may bleed on contact and be a site of seropurulent discharge. Infection is unusual and they will often respond favourably to chemical cautery with topically applied silver nitrate.

Answer 124

This is characterised by urinary discharge from the umbilicus. It is caused by persistence of the urachus which attaches to the bladder. They are associated with other urogenital abnormalities.

Answer 125

This will typically present as an umbilical discharge that discharges small bowel content. Complete persistence of the duct is a rare condition. Much more common is the persistence of part of the duct (Meckel's diverticulum). Persistent vitello-intestinal ducts are best imaged using a contrast study to delineate the anatomy and are managed by laparotomy and surgical closure.

Answer 126

Management CKS recommend a combination of anthelmintic with hygiene measures for all members of the household mebendazole is used first-line for children > 6 months old. A single dose is given unless infestation persists

Answer 127

Hand, foot and mouth disease is a self-limiting condition affecting children. It is caused by the intestinal viruses of the Picornaviridae family (most commonly coxsackie A16 and enterovirus 71). It is very contagious and typically occurs in outbreaks at nursery Clinical features mild systemic upset: sore throat, fever oral ulcers followed later by vesicles on the palms and soles of the feet Management symptomatic treatment only: general advice about hydration and analgesia reassurance no link to disease in cattle children do not need to be excluded from school the HPA recommends that children who are unwell should be kept off school until they feel better they also advise that you contact them if you suspect that there may be a large outbreak.

Answer 128

Management is supportive keep cool, trim nails calamine lotion school exclusion: NICE Clinical Knowledge Summaries state the following: Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash). immunocompromised patients and newborns with peripartum exposure should receive varicella zoster immunoglobulin (VZIG). If chickenpox develops then IV aciclovir should be considered

Answer 129

Hypospadias is a congenital abnormality of the penis which occurs in approximately 3/1,000 male infants. There appears to be a significant genetic element, with further male children having a risk of around 5-15%. It is usually identified on the newborn baby check. If missed, parents may notice an abnormal urine stream. Hypospadias is characterised by a ventral urethral meatus a hooded prepuce chordee (ventral curvature of the penis) in more severe forms the urethral meatus may open more proximally in the more severe variants. However, 75% of the openings are distally located. Hypospadias most commonly occurs as an isolated disorder. However, associated conditions include cryptorchidism (present in 10%) and inguinal hernia. Management once hypospadias has been identified, infants should be referred to specialist services corrective surgery is typically performed when the child is around 12 months of age it is essential that the child is not circumcised prior to the surgery as the foreskin may be used in the corrective procedure in boys with very distal disease, no treatment may be needed

Answer 130

Surfactant deficient lung disease (SDLD, also known as respiratory distress syndrome and previously as hyaline membrane disease) is a condition seen in premature infants. It is caused by insufficient surfactant production and structural immaturity of the lungs The risk of SDLD decreases with gestation 50% of infants born at 26-28 weeks 25% of infants born at 30-31 weeks ``` Other risk factors for SDLD include male sex diabetic mothers Caesarean section second born of premature twins ``` Clinical features are those common to respiratory distress in the newborn, i.e. tachypnoea, intercostal recession, expiratory grunting and cyanosis Chest x-ray characteristically shows 'ground-glass' appearance with an indistinct heart border Management prevention during pregnancy: maternal corticosteroids to induce fetal lung maturation oxygen assisted ventilation exogenous surfactant given via endotracheal tube

Answer 131

Eczema occurs in around 15-20% of children and is becoming more common. It typically presents before 2 years but clears in around 50% of children by 5 years of age and in 75% of children by 10 years of age Features itchy, erythematous rash repeated scratching may exacerbate affected areas in infants the face and trunk are often affected in younger children, eczema often occurs on the extensor surfaces in older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck Management avoid irritants simple emollients large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1 if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid creams soak into the skin faster than ointments emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers) topical steroids wet wrapping large amounts of emollient (and sometimes topical steroids) applied under wet bandages in severe cases, oral ciclosporin may be used

Answer 132

Undescended testis occurs in around 2-3% of term male infants, but is much more common if the baby is preterm. Around 25% of cases are bilateral. ``` Complications of undescended testis infertility torsion testicular cancer psychological ``` Management Unilateral undescended testis NICE CKS now recommend referral should be considered from around 3 months of age, with the baby ideally seeing a urological surgeon before 6 months of age Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age Bilateral undescended testes Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation

Answer 133

March 2018 saw NICE issue new guidance around recognising and managing attention deficit hyperactivity disorder (ADHD). This condition can inflict significant morbidity on a child's life and thus has consequences into adulthood, making good diagnosis and treatment vital. DSM-V defines ADHD as a condition incorporating features relating to inattention and/or hyperactivity/impulsivity that are persistent. Like many paediatric conditions, there has to be an element of developmental delay. For children up to the age of 16 years, six of these features have to be present; in those aged 17 or over, the threshold is five features (Table below). Epidemiology ADHD has a UK prevalence of 2.4%, about twice that of autism, and is more common in boys than in girls (M:F 4:1); Most children are diagnosed between the ages of 3 and 7; There is a possible genetic component.

Answer 134

Basic physiology initially gonads in fetus are undifferentiated on the Y chromosome there is a sex-determining gene (SRY gene) which causes differentiation of the gonad into a testis if absent (i.e. in a female) then the gonads differentiate to become ovaries Most common cause in newborns is congenital adrenal hyperplasia. Other causes include: true hermaphroditism maternal ingestion of androgens

Answer 135

Normal term babies often have hypoglycaemia especially in the first 24 hrs of life but without any sequelae, as they can utilise alternate fuels like ketones and lactate. There is no agreed definition of neonatal hypoglycaemia but a figure of < 2.6 mmol/L is used in many guidelines. Transient hypoglycaemia in the first hours after birth is common. ``` Persistent/severe hypoglycaemia may be caused by: preterm birth (< 37 weeks) maternal diabetes mellitus IUGR hypothermia neonatal sepsis inborn errors of metabolism nesidioblastosis Beckwith-Wiedemann syndrome ``` ``` Features may be asymptomatic autonomic (hypoglycaemia → changes in neural sympathetic discharge) 'jitteriness' irritable tachypnoea pallor neuroglycopenic poor feeding/sucking weak cry drowsy hypotonia seizures other features may include apnoea hypothermia ``` Management depends on the severity of the hypoglycaemia and if the newborn is symptomatic asymptomatic encourage normal feeding (breast or bottle) monitor blood glucose symptomatic or very low blood glucose admit to the neonatal unit intravenous infusion of 10% dextrose

Answer 136

Ebstein's anomaly is a congenital heart defect characterised by low insertion of the tricuspid valve resulting in a large atrium and small ventricle. It is sometimes referred to as 'atrialisation' of the right ventricle. Ebstein's anomaly may be caused by exposure to lithium in-utero. Associations patent foramen ovale (PFO) or atrial septal defect (ASD) is seen in at least 80% of patients, resulting in a shunt between the right and left atria Wolff-Parkinson White syndrome Clinical features cyanosis prominent 'a' wave in the distended jugular venous pulse, hepatomegaly tricuspid regurgitation pansystolic murmur, worse on inspiration right bundle branch block → widely split S1 and S2

Answer 137

Softening of the cartilage of the patella Common in teenage girls Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting Usually responds to physiotherapy

Answer 138

Seen in sporty teenagers | Pain, tenderness and swelling over the tibial tubercle

Answer 139

Pain after exercise | Intermittent swelling and locking

Answer 140

Medial knee pain due to lateral subluxation of the patella | Knee may give way

Answer 141

More common in athletic teenage boys Chronic anterior knee pain that worsens after running Tender below the patella on examination

Answer 142

Toxoplasmosis Rubella Cytomegalovirus HIV, Hep B Syphilis, Varicella. Zika

Answer 143

Sensorineural deafness Congenital cataracts Congenital heart disease (e.g. patent ductus arteriosus) Glaucoma ``` Growth retardation Hepatosplenomegaly Purpuric skin lesions 'Salt and pepper' chorioretinitis Microphthalmia Cerebral palsy ```

Answer 144

Cerebral calcification Chorioretinitis Hydrocephalus Anaemia Hepatosplenomegaly Cerebral palsy

Answer 145

Low birth weight Purpuric skin lesions Sensorineural deafness Microcephaly ``` Visual impairment Learning disability Encephalitis/seizures Pneumonitis Hepatosplenomegaly Anaemia Jaundice Cerebral palsy ```

Answer 146

Hypothyroidism

Paeds Flashcards

(172 cards)