Paediatrics Flashcards

Question

What is the most common congenital infection? Give its clinical features and treatment

Answer 1

CMV Clinical features - hepatosplenomegaly, petechiae, sensorineural hearing loss, cerebral palsy, epilepsy, cognitive impairment Treatment - IV ganciclovir or oral valganciclovir

Answer 2

Mostly asymptomatic but can present with retinopathy (due to chorioretinitis), cerebral calcification and hydrocephalus Management - Pyrimethamine + sulfadiazine + calcium folinate (possible adjunctive prednisolone)

Answer 3

Prevention - VZIG | Treatment - Aciclovir

Answer 4

Rash on soles of feet and on hands | Bone lesions

Answer 5

In utero, if a foetus is deprived of oxygen they will attempt to breathe (unsuccessfully). This is primary apnoea. If oxygen deprivation continues the foetus will gasp irregularly, followed by another period of apnoea (secondary/terminal) during which HR and BP fall. If an infant is delivered after terminal apnoea they will require help breathing in some form

Answer 6

Appearance (blue/pale = 0, pink body/blue extremities = 1, pink = 2) Pulse (absent = 0, below 100bpm = 1, >100bpm = 2) Grimace (floppy = 0, minimal response to stimulation = 1, prompt response to stimulation = 2) Activity (absent = 0, flexed arms/legs = 1, active = 2) Respiration (absent = 0, slow/irregular = 1, vigorous cry = 2)

Answer 7

Weight or abdominal circumference at a lower centile than that of the head. It occurs when the placenta fails to provide adequate nutrition late in pregnancy but brain growth is relatively spared at the expense of liver glycogen and skin fat

Answer 8

Growth restriction where head circumference and weight/abdominal circumference are equally reduced. Due to poor growth in early pregnancy

Answer 9

Large | Breathing (due to macroglossia)

Answer 10

Aka congenital dislocation of the hip (CDH), it is where the socket portion does not fully cover the ball portion, resulting in increased risk of dislocation. It is often managed with careful observation, but may require hip abduction orthosis (splint) in a Pavlik harness if it persists or worsens. It is associated with Breech deliveries

Answer 11

Haemorrhagic disease of the newborn. This can cause intracranial haemorrhage. NOTE: Breast milk has much less vitamin K than formula milk, and infants of mothers taking anticonvulsants are at increased risk of HDN

Answer 12

Phenylketonuria Hypothyroidism Haemoglobinopathies (sickle cell and thalassaemia) CF (given by measuring serum immunoreactive trypsin) MCAD deficiency

Answer 13

Hypoxia, hypercapnia, metabolic acidosis

Answer 14

Mild - Infant is irritable and responds excessively to stimulation Moderate - Infant shows marked abnormalities of tone/movement and may have seizures Severe - No spontaneous movements or response to pain, seizures are prolonged and multi-organ failure may occur

Answer 15

Bruising and oedema of the head extending beyond the margins of the skull bones

Answer 16

Haematoma from bleeding below the periosteum, confined within the margins of the skull sutures (usually involves the parietal bone)

Answer 17

Pre-term babies and babies born to diabetic mothers. Glucocorticoids can be given antenatally

Answer 18

Apnoea Bradycardia Bounding pulse Systolic murmur

Answer 19

Closure of the duct with IV indomethacin, prostacyclin synthetase inhibitors or ibuprofen. If these are unsuccessful, surgery is required

Answer 20

Because IgG is mainly transferred across the placenta in the final trimester of pregnancy

Answer 21

A form of cerebral palsy that manifests as especially high tightness or stiffness in the muscles of the lower extremities.

Answer 22

``` Clinical: Difficulty feeding Aspiration of milk from the stomach Vomiting Abdominal distension Rectal bleeding ``` xray: Distended loops of bowel Thickening of the bowel wall with intramural gas Gas in the portal tract

Answer 23

...Use of high concentrations of oxygen, and very low birth weight

Answer 24

Ongoing oxygen requirement at the age of 36 weeks. NOTE: Lung damage occurs due to artificial ventilation, oxygen toxicity and infection (pertussis/RSV). Corticosteroids may facilitate earlier weaning.

Answer 25

Widespread opacification, sometimes with cystic changes

Answer 26

Encephalopathy resulting from the deposition of unconjugated bilirubin in the basal ganglia and brainstem nuclei. It is less common now because it used to be caused by severe rhesus haemolytic disease, however this has become rarer with the introduction of prophylactic anti-D immunoglobulin for rhesus negative mothers

Answer 27

Increased muscle tone causing an infant to lie with an arched back. It is seen in kernicterus and meningitis.

Answer 28

``` Rhesus haemolytic disease ABO incompatibility G6PD deficiency Hereditary spherocytosis Congenital infection ```

Answer 29

IgG anti-A-haemolysin (IgG can cross the placenta but IgM can't). We test for ABO incompatibility with the direct antibody (Coombs') test. Positive Coombs' test means ABO incompatibility

Answer 30

``` Physiological jaundice Breast milk jaundice Dehydration Infection Crigler-Najjar syndrome (deficient or absent UGT) ```

Answer 31

``` Biliary atresia Breast milk jaundice Infection (especially UTI) Congenital hypothyroidism Neonatal hepatitis syndrome ```

Answer 32

Use threshold table to determine whether bilirubin measurement warrants treatment Phototherapy (1st line) - converts unconjugated bilirubin into water-soluble pigment Other options: Exchange transfusion IViG

Answer 33

Transient tachypnoea of the newborn - caused by delay in the reabsorption of lung liquid, and usually settles within the first day of life

Answer 34

Pneumothorax Pneumomediastinum Persistent pulmonary hypertension Management: In normal term infant with no FHx of group B streptococcus, observation is recommended If there is suspected infection/risk factors for infection, give IV ampicillin AND gentamicin Consider oxygen therapy/CPAP in severe cases

Answer 35

Prolonged rupture of the membranes Low birthweight Chorioamnionitis

Answer 36

PPHN causes right-to-left shunting of blood, so an echo must be done to check for any congenital heart defects. ``` Management: Inhaled nitric oxide Sildenafil (viagra) High frequency (oscillatory) ventilation ECMO (in severe but reversible cases) ```

Answer 37

Left-sided herniation of the abdominal contents through the posterolateral foramen of the diaphragm

Answer 38

Large NG tube passed and suction applied to prevent distension of the intrathroacic bowel. Once stabilised, surgery is required to repair the herniation

Answer 39

Pulmonary hypoplasia

Answer 40

Coagulase negative Staphylococcus (staph. epidermidis) ``` Other common organisms include: Gram positives (S. aureus, E. faecalis) Gram negatives (Klebsiella, Pseudomonas, Serratia) ```

Answer 41

Ampicillin or penicillin AND a 3rd generation cephalosporin (e.g. cefotaxime)

Answer 42

Benzylpenicillin OR ampicillin AND Gentamicin OR cefotaxime OR ceftriaxone

Answer 43

``` Meconium staining of the amniotic fluid Widespread rash Septicaemia Pneumonia Meningitis ```

Answer 44

Amoxicillin OR co-trimoxazole (NOT trimethoprim) | If systemic infection: IV ampicillin or benzylpenicillin with gentamicin

Answer 45

Gonococcus - treat with 3rd generation cephalosporin Chlamydia - treat with erythromicin for 2 weeks

Answer 46

Infants of mothers who are HbsAg positive - vaccination reduces the risk of vertical transmission

Answer 47

(AKA cerebral infarction) It is infarction in the territory of the middle cerebral artery, which may present with seizures

Answer 48

... the frontonasal and maxillary processes ... the palatine processes and the nasal septum

Answer 49

Micrognathia Glossoptosis Midline cleft of the soft palate

Answer 50

Weight for age that falls below the 5th percentile on multiple occasions or weight deceleration that crosses 2 major percentile lines on a growth chart

Answer 51

Persistent salivation and drooling Polyhydramnios during pregnancy

Answer 52

``` Atresia/stenosis of the duodenum Atresia/stenosis of the jejunum/ileum Malrotation with volvulus Meconium ileus Meconium plug ```

Answer 53

Hirschsprung disease - absence of the myenteric nerve plexus in the rectum which may extend along the colon Rectal atresia - absence of the anus at the normal site

Answer 54

When abdominal contents protrude through the umbilical ring and are covered by a transparent sac (formed by the amniotic membrane and peritoneum)

Answer 55

When bowel protrudes through a defect in the anterior abdominal wall adjacent to the umbilicus and there is no covering sac

Answer 56

Exomphalos

Answer 57

Both describe the non-forceful return of milk, but posseting refers to small amounts of milk that often accompany the return of swallowed air (a burp), while regurgitation refers to larger, more frequent losses

Answer 58

Inappropriate relaxation of the lower oesophageal sphincter as a result of functional immaturity

Answer 59

Pyloric stenosis ``` Visible gastric peristalsis Pyloric mass ('olive shaped') in RUQ ```

Answer 60

Ramstedt pyloromyotomy - this involves dividing the hypertrophied muscle down to but not including the mucosa

Answer 61

Paroxysmal inconsolable crying or screaming often accompanied by drawing up of the knees and passage of excessive flatus. Occurs several times per day

Answer 62

``` Presentation: Paroxysmal, severe colicky pain with pallor Refusing feeds Vomiting Redcurrant jelly stool Abdominal distension ``` Management: Rectal air insufflation (unless there are signs of peritonitis)

Answer 63

2% of people have an ileal remnant of the omphalomesenteric duct, containing either ectopic gastric mucosa or pancreatic tissue. This can bleed, presenting with severe PR bleeding (neither bright red, nor melaenia). It is identified using a technetium scan, which shows increased uptake by ectopic gastric mucosa in 70% of cases

Answer 64

Malrotation - during rotation of the small bowel in foetal life, if the mesentery is not fixed at the duodenojejunal flexure or in the ileocaecal region, its base is shorter and this predisposes to volvulus

Answer 65

Intestinal obstruction

Answer 66

A fibrous stalk of peritoneal tissue that attaches the caecum to the peritoneum in the right lower quadrant. They may cross the duodenum, leading to obstruction.

Answer 67

Coeliac disease

Answer 68

CLO test and C-13 breath test

Answer 69

PPIs Eradication of H. pylori if it is present (with amoxicillin AND metronidazole OR clarithromycin) NOTE: If these treatments fail, an upper GI endoscopy is performed. If this is normal, it is diagnosed as functional dyspepsia

Answer 70

Linear furrows and trachealisation of the oesophagus Corticosteroids (fluticasone or viscous budesonide)

Answer 71

Blood in the stool Campylobacter jejuni

Answer 72

Dehydration leading to shock

Answer 73

Weight loss

Answer 74

When children drink a large amount of water to overcome dehydration, they become hyponatraemic. This makes water move from the extracellular compartment to the intracellular compartment, causing an increase in brain volume, which can lead to seizures

Answer 75

Shock Deterioration Persistent vomiting

Answer 76

Autosomal recessive metabolic disorder characterised by the malabsorption of zinc which results in: Diarrhoea Inflammatory rash around the mouth and/or anus Hair loss

Answer 77

Coeliac disease

Answer 78

Chronic non-specific diarrhoea

Answer 79

Distal ileum or proximal colon

Answer 80

Paediatric UC Activity Index (PUCAI): Severe >65 points Moderate 10-64 points Mild <10 points

Answer 81

Absence of ganglion cells from the myenteric and submucosal plexuses of the large bowel Diagnosed via suction full thickness rectal biopsy - will show absence of ganglion cells and presence of large acetylcholinesterase-positive nerve trunks

Answer 82

Hirschsprung Disease

Answer 83

< 4 weeks old = electronic thermometer in the axilla 4+ weeks to 5 years old = electronic or chemical dot thermometer in the axilla OR infrared tympanic thermometer NOTE: Axillary measurements tend to underestimate body temperatures by around 0.5 degrees.

Answer 84

Passive immunity from the mother.

Answer 85

Urgent investigation with a septic screen and broad-spectrum antibiotics given immediately.

Answer 86

Blood culture FBC including WCC Acute phase proteins (e.g. CRP) Urine sample

Answer 87

``` Fever > 38 degrees if < 3 months old Fever > 39 degrees if 3-6 months old Colour - pale, mottled or cyanosed Neurological - reduced consciousness, neck stiffness, bulging fontanelle, status epileptics, focal neurological signs, seizures Significant respiratory distress Bile-stained vomiting Severe dehydration or shock ```

Answer 88

< 1 month = 3rd generation cephalosporin e.g. cefotaxime (ampicillin is often added to cover listeria) 1+ months = High dose ceftriaxone NOTE: Aciclovir may be given if herpes simplex encephalitis is suspected.

Answer 89

Viral infections

Answer 90

Bacterial infection of the meninges usually follows bacteraemia Much of the damage to the meninges is caused by host response to infection rather than the infective organism Release of inflammatory mediators, recruitment of inflammatory cells and endothelial damage leads to cerebral oedema, raised ICP and decreased cerebral blood flow Inflammatory responses below the meninges lead to a vasculopathy, resulting in cerebral cortical infarction Fibrin deposits may block the resorption of CSF by the arachnoid villi leading to hydrocephalus

Answer 91

Neonatal - 3 months: Group B streptococcus E. coli and other coliforms Listeria monocytogenes 1 month - 6 years: N. meningitidis S. pneumoniae H. influenzae > 6 years: N. meningitidis S. pneumoniae

Answer 92

Bloods - CRP, WCC, culture, PCR to check for N. meningitidis LP - confirm diagnosis, identify causative organism and antibiotic sensitivities Throat swabs - for culture and PCR Optional - rapid antigen screens on urine and blood samples

Answer 93

1. Administer single dose of IV/IM benzylpenicillin (consider chloramphenicol or vancomycin if allergic) 2. Administer IV ceftriaxone: Neisseria meningitidis = 7 days Haemophilus influenzae = 10 days Strep. pneumoniae = 14 days 3. Consider dexamethasone if: - There is frankly purulent CSF - CSF WBC > 1000/microL - Raised CSF WBC and protein conc. > 1g/L - Bacteria on Gram stain NOTE: Do NOT give steroids in meningococcal septicaemia. 4. IV 0.9% saline of there are signs of shock/dehydration

Answer 94

Complement deficiency

Answer 95

Hearing impairment Local vasculitis - can lead to nerve palsies or other focal signs Local cerebral infarction - may result in seizures/epilepsy Subdural effusion - particularly with H. influenzae and pneumococcal meningitis Hydrocephalus Cerebral abscess

Answer 96

Prophylactic rifampicin or ciprofloxacin can be given to all household contacts for meningococcal meningitis and H. influenzae infection - this will eradicate nasopharyngeal carriage, but should not be given to the patient as the 3rd generation cephalosporin will already achieve this. Prophylactic meningococcal group C vaccine should be given to all household contacts of patients with group C meningococcal meningitis.

Answer 97

``` Common: Enteroviruses EBV Adenoviruses Mumps (now rare in UK due to MMR) ``` ``` Uncommon: Mycoplasma Borellia burgdorferi (Lyme disease) TB Fungal infections ```

Answer 98

Malignancy | Autoimmune diseases

Answer 99

Fever Altered consciousness Often seizures

Answer 100

``` Enteroviruses Respiratory viruses (influenza) Herpes viruses (HSV, VSV, HHV-6) ``` NOTE: HSV encephalitis is rare in children, but can be devastating.

Answer 101

High dose IV aciclovir

Answer 102

3 weeks IV aciclovir If untreated, the mortality rate is 70%

Answer 103

Toxin-producing S. aureus | Group A streptococci

Answer 104

Fever > 39 degrees Hypotension Diffuse, eryhtematous, macular rash NOTE: 1-2 weeks after onset of illness, you will see desquamation of the palms, soles, fingers and toes.

Answer 105

``` Mucositis GI dysnfunction Renal impairment Liver impairment Clotting abnormalities and thrombocytopenia CNS (altered consciousness) ```

Answer 106

Intensive care is required Areas of infection should be surgically debrided Antibiotics - these often include a 3rd generation cephalosporin (e.g. ceftriaxone), clindamycin (switches off toxin production), IVIG (neutralises circulating toxin)

Answer 107

A toxin produced by < 2% of S. aureus strains, which emerged in the UK and causes recurrent skin and soft tissue infections Can also cause necrotising fasciitis and necrotising haemorrhagic pneumonia following flu-like illness In children, a procoagulant state induced by the toxin can cause venous thrombosis

Answer 108

Staph. aureus | Group A streptococcus

Answer 109

``` Surgical emergency Debridement of all infected and devitalised tissues IV fluids Empirical IV antibiotics (IVIG may also be given) ```

Answer 110

Purpuric, non-blanching, irregular in size and outline, with necrotic centre. When the lesions are extensive it is called purport fulminans.

Answer 111

...group B meningococci.

Answer 112

``` Pharyngitis Otitis media Conjunctivitis Sinusitis Invasive disease (pneumonia, bacterial sepsis, meningitis) - mainly in young infants with weak immune systems against encapsulated pathogens ```

Answer 113

Daily prophylactic penicillin.

Answer 114

Yes, a 13-valent pneumococcal vaccine is included in the UK standard immunisation schedule.

Answer 115

Definition: A localised, highly contagious, staphylococcal or streptococcal skin infection. Lesions are usually found on the face, neck and hands. They begin as erythematous macules which become vesicular/pustular or even bulbous. Rupture of the vesicles leads to honey-coloured crusted lesions.

Answer 116

Advice - tell parents it won't scar, inform about importance of hygiene, avoid school until lesions are dry/scabbed over. Medical: Localised infection - topical fusidic acid (3-4x/day for 7 days) Extensive or bullous infection - oral flucloxacillin (4x/day for 7 days) (Use clarithromycin if allergic to penicillin)

Answer 117

Boils are infections of hair follicles or sweat glands, usually caused by S. aureus. Treatment = Systemic antibiotics, consider surgical incision.

Answer 118

IV antibiotics (high-dose ceftriaxone) NOTE: It is almost always unilateral.

Answer 119

It is characterised by proptosis and painful/limited ocular movement with/without reduced visual acuity. Complications: Abscess formation Meningitis Cavernous sinus thrombosis

Answer 120

Exfoliative staphylococcal toxin causes the separation of the epidermis through to the granular cell layers of the skin.

Answer 121

Fever Malaise Purulent, crusting and localised infection around the eyes, nose and mouth Subsequent widespread erythema and tenderness of the skin Nikolsky sign - areas of the epidermis will separate on gentle pressure, leaving denuded areas of skin

Answer 122

Scalded skin syndrome

Answer 123

IV antibiotics - flucloxacillin Analgesia Monitor hydration/fluid balance

Answer 124

Mucous membranes | Skin

Answer 125

``` HSV1 = lip/skin lesions HSV2 = genital lesions ``` Management = symptomatic (paracetamol/ibuprofen for pain/fever), consider aciclovir (DNA polymerase inhibitor).

Answer 126

Gingivomastitis - it presents between 10 months and 3 years of age with vesicular lesions on the lips, gums and anterior surfaces of the tongue and hard palate. It is also accompanied by high fever, and may progress to painful ulceration. Lasts up to 2 weeks.

Answer 127

Recurrent HSV lesion on the gingival/lip margin.

Answer 128

Widespread vesicular lesions develop on eczematous skin. This can be complicated by secondary bacterial infection, which can lead to septicaemia.

Answer 129

Painful, erythematous and oedematous white pustules on the site of broken skin (usually on the fingers). They are spread by auto-inoculation from gingivomastitis.

Answer 130

Involvement of the cornea can lead to dendritic ulceration, corneal scaring and loss of vision.

Answer 131

Spread = respiratory droplets Incubation period = 14 days Rash = widespread vesicular rash with lesions starting on the head and trunk, and progressing to the peripheries

Answer 132

Secondary bacterial infection - mainly with staphylococci and group A streptococci, and can lead to toxic shock syndrome or necrotising fasciitis Encephalitis - with associated cerebellitis Purpura fulminans - can lead to loss of large areas of skin by necrosis Severe progressive disseminated VZV infecition - in immunocompromised patients

Answer 133

1. Immunocompetent adolescents/adults = consider oral aciclovir 800mg 5x/day for 7 days 2. Immunocompromised children = IV aciclovir We can give human varicella zoster immunoglobulin in high-risk immunocompromised individuals with deficient T cell function following contact with chickenpox.

Answer 134

EBV It is also associated with: Burkitt's Lymphoma Lymphoproliferative Disease Nasopharyngeal Carcinoma

Answer 135

Oral contact - glandular fever is referred to as the kissing disease.

Answer 136

Hepatosplenomegaly (the splenomegaly in particular) - avoid contact sports.

Answer 137

Atypical lymphocytes (numerous large T cells) Positive monospot test - detects heterophil antibodies Viral capsid antigen (VCA) IgG and IgM Anti-EBNA antibodies

Answer 138

Ampicillin and amoxicillin.

Answer 139

Saliva, genital secretion or breastmilk.

Answer 140

Atypical lymphocytes - positive on blood film | Heterophile antibodies - negative

Answer 141

``` Retinitis Pneumonitis Bone marrow failure Encephalitis Hepatitis Oesophagitis Enterocolitis ``` Treatment if necessary = IV ganciclovir, oral valganciclovir or foscarnet.

Answer 142

HHV-6 and HHV-7 cause exanthema subitem (aka roseola infantum) Presentation: High fever and malaise lasting a few days Followed by generalised macular rash Management: Symptomatic Explain risk of febrile seizures

Answer 143

Erythema infectiosum (aka fifth disease, aka slapped-cheek syndrome) Most outbreaks occur in Spring, and it is spread by respiratory secretions, vertical transmission or infected blood products. NOTE: It can also cause aplastic crises in children with chronic haemolytic anaemias (sickle cell/thalassaemia), as well as hydrops fetalis.

Answer 144

Coxsackie virus Echoviruses Polioviruses

Answer 145

Faecal-oral and respiratory droplet routes.

Answer 146

Hand, foot and mouth disease (largely caused by coxsackie A16) - painful vesicular lesions on the hands, feet, mouth and tongue which resolve within days. Herpangina (usually coxsackie A) - vesicular and ulcerated lesions on the soft palate and uvula, causing anorexia, painful swallowing and fever. Meningitis/Encephalitis - enteroviruses are the most common cause of viral meningitis in developed countries. Pleurodynia (Bornholm Disease) - acute fever, pleuritic chest pain and muscle tenderness which resolves within days. Myocarditis and pericarditis - rare, but may present with chest pain and/or heart failure associated with febrile illness. Enteroviral neonatal sepsis syndrome - rare, occurring in first few weeks of life, results from transplacental/intrapartum infection and mimics bacterial sepsis.

Answer 147

We have no antivirals that are effective against enteroviruses and the use of IVIG is controversial.

Answer 148

White spots on the buccal mucosa seen against bright red background - they are pathognomonic of measles but are difficult to see.

Answer 149

Maculopapular rash which becomes blotchy and confluent, and may desquamate in the second week. It begins begins the ears and spreads to the whole of the body.

Answer 150

Encephalitis Subacute Sclerosing Panencephalitis (SSPE) - occurs, on average, 7 years after measles infection and caused by a variant that persists in the CNS. Leads to loss of neurological function, progressing to dementia and death over several years.

Answer 151

The local Health Protection Unit (HPU).

Answer 152

respiratory droplets mumps virus replicates in epithelial cells

Answer 153

Incubation period = 15-24 days Clinical features: Parotitis - may cause earache or pain eating/drinking Fever Malaise Plasma amylase will be elevated due to parotid inflammation Abdominal pain in the event of pancreatic involvement NOTE: Mumps can be followed by epididymo-orchitis (unilateral, infertility is rare), meningitis or hearing loss (hearing loss is unilateral and transient).

Answer 154

Respiratory droplets Incubation period of 15-20 days

Answer 155

Presentation: Maculopapular rash (usually appearing on the face and spreading centrifugally to cover the whole body) lasting 3-5 days Lymphadenopathy Diagnosis: Clinical, but can be confirmed by serology using oral fluid sample Management: Notify local HPU Symptomatic relief - generally self-limiting No effective antivirals exist

Answer 156

Arthritis Encephalitis Thrombocytopenia Myocarditis

Answer 157

Most commonly affects children aged 6 months to 4 years, and is more common in Japanese children. ``` Cardinal Features = CRASH and Burn: Conjunctivitis Rash Adenopathy (usually cervical) Strawberry tongue Hand - swelling or erythema on hands/feet Burn - fever ``` NOTE: Patients usually have high inflammatory markers (CRP, ESR, WCC) with a platelet count that rises in the second week of illness. Complication: Coronary artery aneurysms can occur and cause narrowing of vessels due to scarring, leading to myocardial ischaemia and death. Management: IVIG High-dose aspirin Cardiovascular risk assessment Wafarin long-term in patients with giant coronary artery aneurysms Corticosteroids, infliximab or ciclosporin in patients with persistent inflammation and fever

Answer 158

Sputum samples can be used in children > 8 years old For children < 8 years old, gastric washings (via NG tube) on 3 consecutive mornings can be used to identify TB using Ziehl-Neelsen or auramine stains and mycobacterial cultures PCR-based methods can be used but provide limited information about drug-resistance Tuberculin Skin Test - inject purified protein derivative intradermally into the forearm and observe 48-72 hours later to measure induration in millimetres - this will be positive in patients who have received the BCG vaccination Interferon-Gamma Release Assays (IGRAs) - blood test which assessed the response of T cells to antigens expressed by M. tuberculosis but not BCG - negative result does not reliably rule out TB infection

Answer 159

Lymphoid interstitial pneumonitis

Answer 160

It is a notifiable disease. Rifampicin + Isoniazid 6 months Pyrazinamide + Ethambutol for the first 2 months In adolescents - pyridoxine (vit B6) weekly to prevent peripheral neuropathy caused by isoniazid NOTE: Treat even if asymptomatic to reduce risk of reactivation later in life. NOTE 2: Children < 2 years old who have close contact with a sputum smear positive pulmonary TB patient should be started on prophylactic isoniazid.

Answer 161

They spread by soil and water (no need to contact trace). They cause persistent lymphadenitis which can be treated by complete lymph node excision or watchful waiting. They can cause disseminated disease in immunocompromised individuals, and are also particularly common in patients with cystic fibrosis. NOTE: Mycobacterium avium intracellulare is particularly common in HIV patients.

Answer 162

Intrauterine (during pregnancy) Intrapartum (at delivery) Postpartum (through breastfeeding)

Answer 163

Children > 18 months: Detect antibodies against the virus | Children < 18 months will have transplacental maternal IgG HIV antibodies, so the most sensitive test is HIV RNA PCR

Answer 164

PCP prophylaxis with co-trimoxazole Immunisations (except BCG) MDT approach

Answer 165

Causative organism = Borrelia burgdorferi Clinical features: Incubation period = 4-20 days Erythema migrans at site of tick bite Early features = fever, headache, malaise, myalgia, arthralgia, lymphadenopathy Late features (weeks/months after infection) = neurological, cardiac and joint conditions) Diagnosis: Serology and clinical features If erythema migrans is not seen, perform ELISA If ELISA is positive, perform immunoblot test ``` Treatment: 1st line = doxycycline 2nd line = amoxicillin 3rd line = azithromycin IV ceftriaxone is used for carditis or neurological disease ``` NOTE: Some people have a Jarish-Herxheimer reaction -antibiotics cause lysis of bacterial membranes leading to the release of toxins causing symptoms to worsen.

Answer 166

Find image

Answer 167

X-linked recessive or autosomal recessive

Answer 168

Antimicrobial prophylaxis: - For T cell/neutrophil defects, co-trimoxazole can prevent PCP and itraconazole or fluconazole can prevent fungal infections - For B cell defects antibiotic prophylaxis can prevent bacterial infections Antibiotic treatment Screening for end-organ disease Immunoglobulin replacement therapy - for antibody deficiency Bone marrow transplantation - e.g. for SCID Gene therapy

Answer 169

Early phase: Occurs within minutes of exposure to allergen Caused by histamine release and other mast cell mediators Cause urticaria, angioedema, sneezing, vomiting, bronchospasm and/or cardiovascular shock Late phase: May occur 4-6 hours after exposure to allergen Especially common with inhalant allergens Causes nasal congestion in the upper airway, cough and bronchospasm in the lower airway NOTE: Most severe life-threatening allergic reactions are IgE mediated, and non-IgE allergic responses have a delayed onset of symptoms and varied clinical course.

Answer 170

Objectively reproducible symptoms or signs following exposure to a defined stimulus at a dose that is usually tolerated by most people.

Answer 171

A hypersensitivity reaction initiated by specific immunological mechanisms. This can be IgE mediated or non-IgE mediated (e.g. Coeliac disease).

Answer 172

A personal and/or familial tendency to produce IgE antibodies in response to ordinary exposures to potential allergens, usually proteins. Strongly associated with asthma, allergic rhinitis and conjunctivitis, eczema and food allergy.

Answer 173

A serious allergic reaction with bronchial, laryngeal or cardiovascular involvement that is rapid in onset and may cause death.

Answer 174

That the increased prevalence of allergy in many countries is due to altered microbial exposure associated with modern living conditions.

Answer 175

Infancy: Eczema Food allergy Primary School years: Allergic rhinitis Conjunctivitis Asthma

Answer 176

Mouth breathing Allergic salute Painful or swollen inferior nasal turbinates

Answer 177

Dennie-Morgan folds.

Answer 178

SC or sublingual injections of solutions of an allergic are given to the patient on a regular basis over 3-5 years, with the aim of developing immune tolerance.

Answer 179

A non-immunological hypersensitivity reaction to a specific food.

Answer 180

Infants = Milk, eggs and peanut | Older children = Peanut, tree nut, fish, shellfish

Answer 181

When cross-reactivity of proteins present in fresh fruit/vegetables/nuts occurs with those present in pollens - someone becomes allergic to a pollen that has a very similar protein to that found in a fruit/vegetable/nut, so they also become allergic to that food.

Answer 182

Non-IgE allergic reactions often present with GI symptoms such as diarrhoea, vomiting, abdominal pain and sometimes faltering growth.

Answer 183

Where repetitive vomiting due to non-IgE mediated allergies (usually to food protein) results in shock.

Answer 184

IgE mediated allergies: Skin prick tests Patch testing Measurement of specific IgE antibodies in the blood Non-IgE: Harder to diagnose Endoscopy and intestinal biopsy can be performed - eosinophilic infiltrates For both: GOLD STANDARD is exclusion of the relevant food

Answer 185

Definition = abnormal reaction by the body's immune system to a protein found in cows' milk. Classification = IgE-mediated (immediate) or non-IgE mediated (delayed). Presentation: GI symptoms (non-specific) Skin symptoms - hives and eczema Babies - wheezing, irritability, facial swelling, poor growth Management: Strict cows' milk elimination from diet for minimum 6 months or until child is 9-12 months old May require removal of cows' milk from mother's diet or change of formula milk Regularly monitor growth Re-evaluate tolerance to cows' milk at later date

Answer 186

Based on pattern, severity and seasonality: Pattern = intermittent or persistent Severity = mild, moderate or severe Seasonality = seasonal or perennial

Answer 187

For 'as required' treatment for occasional symptoms: If aged 2-5 or preference for oral treatment = oral antihistamine All others = intranasal azelastine (antihistamine) For those who want preventative treatment for frequent symptoms: If main issue is nasal blockage/polyps = intranasal corticosteroid (e.g. beclomethasone) If main issue is sneezing/nasal discharge = antihistamine or intranasal corticosteroid For people requiring rapid relief whilst waiting for preventative treatment to take effect: Intranasal corticosteroids for up to 7 days Consider adding oral antihistamine If symptoms are severe, prescribe 5-10 day course of prednisolone

Answer 188

Local vasodilation and increased permeability of capillaries and venues, due to activation of skin mast cells and subsequent release of various mediators including histamines.

Answer 189

Severity can be assessed with tools such as the Urticaria activity score (UAS7). Treatment (it's usually self-limiting): Offer non-sedating antihistamine (e.g. cetirizine) for up to 6 weeks If severe, offer oral corticosteroid (short course) In refractory cases, leukotriene receptor antagonists or anti-IgE antibody (omalizumab) can be used

Answer 190

Coryza, sore throat, earache, sinusitis, stridor

Answer 191

Cough, wheeze, respiratory distress

Answer 192

Ex-preterm infants with bronchopulmonary dysplasia Haemodynamically significant congenital heart disease or disorders causing muscle weakness Cystic fibrosis Immunodeficiency

Answer 193

Stridor: Caused by extrathoracic airway narrowing Predominantly inspiratory Wheeze: Caused by intrathoracic airway narrowing Predominantly expiratory

Answer 194

Snoring is inspiratory. It is caused by variable partial upper airway obstruction so it causes a rough inspiratory noise (stertor).

Answer 195

Common cold (coryza) Sore throat (pharyngitis, including tonsillitis) Acute otitis media Sinusitis

Answer 196

Rhinoviruses Coronaviruses Respiratory syncytial virus (RSV)

Answer 197

Group A beta-haemolytic streptococci | EBV

Answer 198

Phenoxymethylpenicillin If penicillin allergic - Clarithromycin Treatment is required for 10 days, and amoxicillin should be avoided as it can cause a widespread maculopapular rash if the tonsillitis is caused by glandular fever. NOTE: Watch out for tonsillitis in patients on DMARDs or carbimazole - DMARDs can cause immunodeficiency and carbimazole can cause idiosyncratic neutropenia.

Answer 199

Causative organism = group A streptococcus Symptoms = fever, headache, tonsillitis, 'sandpaper-like' maculopapular rash with flushed cheeks and perioral sparing, tongue is often white and coated and may be sore Treatment: (symptoms tend to settle after 1 week) Antibiotics - phenoxymethylpenicillin 4x/day for 10 days (alternative = azithromycin) Avoid school for 24 hours after starting antibiotics Complications: Suppurative - otitis media, throat infection, sinusitis, strep pneumonia, meningitis, endocarditis, osteomyelitis, necrotising fasciitis, toxic shock syndrome Non-suppurative (autoimmune) - rheumatic fever, step glomerulonephritis

Answer 200

Most common in: 6-12 month olds. Tympanic membrane: bright red, bulging, loss of normal light reflection. Causative organisms: RSV, rhinovirus, pneumococcus, H. influenzae, M. catarrhalis. Complications: tympanic membrane perforation, mastoiditis, meningitis. How long: usually improved after 3 days but can last 1 week. Management: Most cases do not require antibiotics but in more severe cases (rapid deterioration or systemic illness) give amoxicillin 5-7 days (alternative clarithromycin/erythromycin)

Answer 201

Symptoms: often asymptomatic but may cause conductive hearing loss (most common cause in children). Most common in: 2-7 year olds Treatment: Ventilation tubes (grommets) - the benefits don't last longer than 1 year. If problems recur after grommets are removed, reinsertion with adjuvant adenoidectomy is advocated.

Answer 202

Viral (though it rarely occurs secondary to bacterial infection)

Answer 203

They do not develop until late childhood.

Answer 204

High-dose nasal corticosteroid (symptomatic) Antibiotics (usually not given, as they are unlikely to change the course of the illness) - phenoxymethylpenicillin (alternative - clarithromycin)

Answer 205

8 years old.

Answer 206

Tonsillectomy alone: Recurrent severe tonsillitis Peritonsilar abscess (quinsy) Tonsillectomy with adenoidectomy: Recurrent otitis media with effusion (glue ear) with hearing loss Obstructive sleep apnoea

Answer 207

Definition: A harsh, musical sound caused by partial obstruction of the lower portion of the upper airway. Most common cause: Croup. Severity: Can be assessed by when it occurs - no stridor, only on crying, at rest, biphasic Can also be assessed by degree of chest retraction - none, only on crying, at rest

Answer 208

Examination of the throat using a spatula may precipitate total obstruction of the upper airway. NOTE: You can attempt examination if full resuscitation equipment and personnel are on hand.

Answer 209

Most common = parainfluenza virus Other: Rhinovirus RSV Influenza

Answer 210

6 months to 6 years old (peak incidence 1-2 years old).

Answer 211

Coryzal symptoms Hoarseness due to inflammation of the vocal cords Barking cough ('like a sea lion') due to tracheal oedema and collapse Harsh stridor Variable degree of breathing difficulty with chest retraction Symptoms worse at night Treatment: - If admission is not required: single dose of oral dexamethasone (0.15mg/kg) - Advise that it usually resolves within 48 hours - Croup causing chest recession at rest: oral dexamethasone OR oral prednisolone OR nebuliser steroids (budesonide) - Severe: nebuliser adrenaline with oxygen by face mask

Answer 212

Causative organism: H. influenzae type B (Hib) Age group: 1-6 years old. Clinical features: High fever in very ill looking child Intensely painful throat that prevents speaking/swalling -drooling saliva due to this Soft inspiratory stridor and rapidly increasing respiratory difficulty Child is sitting immobile, upright, with an open mouth to optimise the airway

Answer 213

Lying the child down Examining the throat with a spatula Performating a lateral neck xray

Answer 214

Cough is not a feature of epiglottitis.

Answer 215

``` Urgent admission and treatment in ITU Secure airway and give supplemental oxygen Take blood culture Start IV antibiotics (e.g. cefuroxime) Consider steroids and adrenaline ```

Answer 216

Rifampicin

Answer 217

Presentation: It is rare but dangerous, and presents similarly to acute epiglottitis - high fever, rapidly progressive airway obstruction with copious thick airway secretions. Causative organism: S. aureus. Management: IV antibiotics, consider intubation and ventilation.

Answer 218

``` Mucosal inflammation (e.g. bronchiolitis) Bronchoconstriction (e.g. asthma, mechanical obstruction) ```

Answer 219

Bronchiolitis.

Answer 220

Age group: 1-9 months (90% of cases). Causative organism: RSV (80% of cases) - others include parainfluenza, rhinovirus, adenovirus, influenza and human metapneumovirus. High risk: Infants born prematurely who develop bronchopulmonary dysplasia or those with underlying lung or congenital heart disease.

Answer 221

``` Examination findings: Dry wheezy cough Tachypnoea/tachycardia Subcostal and intercostal recession Hyperinflation Fine end-inspiratory crackles High-pitched wheezes (usually expiratory) ``` ``` Management: Humidified oxygen if sats are below 92% Consider CPAP Consider upper airway suction if there is evidence of increased secretions Fluids (NG tube) ``` NOTE: Most patients recover within 2 weeks. Prophylaxis: Palivizumab (monoclonal antibody against RSV).

Answer 222

Bronchiolitis obliterans.

Answer 223

Viral episodic wheeze.

Answer 224

Maternal smoking during and/or after pregnancy | Prematurity

Answer 225

Usually resolves after about 5 years (probably due to increased airway size).

Answer 226

Salbutamol inhaler (with spacer) Encourage parents to stop smoking (if applicable) Dosing - when the child is wheezy/breathless, give up to 10 puffs of salbutamol up to every 4 hours If salbutamol is not effective, intermittent LTRA or intermittent ICS or both may be considered

Answer 227

It is classified as atopic asthma if wheezing is experience between viral infections (interval symptoms) and if there is evidence of allergy to one or more inhaled allergens.

Answer 228

Generalised polyphonic expiratory wheeze. NOTE: Between attacks, auscultation in patients with asthma is usually normal.

Answer 229

Depressions at the base of the thorax associated with the muscular insertion of the diaphragm - they are associated with chronic obstructive airways disease such as asthma in childhood.

Answer 230

< 5 years old = clinical diagnosis. > 5 years old: Spirometry - FEV1/FVC <70% of expected is a positive result Bronchodilator reversibility - consider in patients with positive spirometry (improvement in FEV1 of >12% is positive) Peak expiratory flow variability - monitor for 2-4 weeks FeNo Test - consider in cases of diagnostic uncertainty (>35ppb is a positive test)

Answer 231

Step 1: SABA as reliever therapy (e.g. salbutamol) Step 2: Consider 8 week trial of paediatric moderate dose ICS Step 3: After 8 weeks, stop ICS treatment and continue to monitor symptoms - if symptoms resolved but recurred within 4 weeks, restart ICS at low dose. If recur after > 4 weeks, repeat 8 week ICS trial Step 4: Consider adding an LTRA (e.g. montelukast) Step 5: Stop LTRA and refer to child respiratory specialist

Answer 232

Step 1: SABA as reliever (e.g. salbutamol) Step 2: Paediatric low dose ICS Step 3: Consider adding LTRA - review in 4-8 weeks Step 4: Consider stopping LTRA and starting LABA Step 5: Consider changing ICS and LABA therapy to a MART regimen, with paediatric low maintenance ICS dose Step 6: Consider increasing ICS to moderate maintenance dose Step 7: Refer to specialist

Answer 233

Salbutamol Terbutaline They are effective for 2-4 hours.

Answer 234

Salmeterol Formoterol They are effective for 12 hours. Do not prescribe LABAs within an inhaled corticosteroid (ICS).

Answer 235

Anticholinergic bronchodilator.

Answer 236

Mild reduction in height velocity - Impaired growth Adrenal suppression Altered bone metabolism

Answer 237

Supplemental oxygen - use Venturi mask or nasal cannula and maintain 94-98% sats Treat with SABA - nebulised salbutamol can be used in life-threatening asthma If SABA was ineffective, consider nebulised tiotropium bromide

Answer 238

Dry cough - narrowing of small-to-moderate sized airways Barking cough - tracheal inflammation Moist cough - Either increased mucus secretion or infection in the lower airway

Answer 239

Causative organism: Bordatella pertussis Presentation: 1 week of coryza (catarrhal phase) Followed by development of paroxysmal or spasmodic cough, which is followed by an inspiratory whoop Cough is worse at night and may cause vomiting During paroxysm, child may go red/blue in face and mucus may run from nose/mouth Cough lasts up to 3 months Symptoms eventually decrease (convalescent phase) Complications: Pneumonia Seizures Bronchiectasis ``` Investigations: Culture of perinasal swab PCR is more sensitive Serology There is marked lymphocytosis ``` Management: If admission is not needed, and cough started within 21 days, give a macrolide (< 1 month = clarithromycin, 1+ months = azithromycin, pregnant = erythromycin) (immunisation is used as prevention)

Answer 240

Newborns: group B streptococcus Infants and young children: RSV, S. pneumoniae, H. influenzae (S. aureus is a rare but serious cause) Children > 5 years old: M. pneumoniae, S. pneumoniae, C. pneumoniae NOTE: Always consider M. tuberculosis.

Answer 241

Amoxicillin 7-14 days | Alternative = co-amoxiclav, cefaclor, macrlolides

Answer 242

Where there is persistent inflammation of the lower airways due to chronic infection - causes wet cough in children. Thought to be a precursor to bronchiectasis. Causes: H. influenzae M. Catarrhalis

Answer 243

``` Generalised bronchiectasis: Cystic fibrosis Primary ciliary dyskinesia Immunodeficiency Chronic aspiration ``` Focal bronchiectasis: Previous severe pneumonia Congenital lung abnormality Obstruction by a foreign body

Answer 244

Exercise and nutrition Airway clearance therapy Inhaled bronchodilator (e.g. salbutamol) Inhaled hyperosmolar agent (e.g. hypertonic saline) Long-term oral macrolide (azithromycin) Lung transplantation or resection of broncheictatic areas

Answer 245

Inheritance pattern: Autosomal recessive. Average life-expectancy: 40 years. Causative mutation: (most commonly) Delta-F508 mutation In CFTR (a cAMP-dependent chloride channel on the membrane of epithelial cells). Pathophysiology: Abnormal ion transport leads to impaired ciliary function and retention of mucopurulent secretions - this can lead to infection with P. aeruginosa, meconium ileus (10-20% of infants), pancreatic enzyme deficiency (due to duct blockage) and excessive sodium and chloride concentrations in the sweat.

Answer 246

Immunoreactive trypsinogen (IRT) - it will be raised in infants with CF.

Answer 247

They will have low faecal elastase.

Answer 248

60-125 mmol/L (normal is 10-40 mmol/L in children)

Answer 249

Pulmonary monitoring (every 8 weeks in children) Airway clearance techniques (to be done twice per day) Mucoactive agents (first line: rhDNase) New agents: Lumacaftor and ivacaftor (in patients with F508 mutation)

Answer 250

Oral enteric-coated pancreatic replacement therapy | High-calorie diet

Answer 251

Continuous prophylactic antibiotics (usually flucloxacillin) Regular azithromycin decreases respiratory exacerbations NOTE: Bilateral sequential lung transplantation is the only option for end-stage CF lung disease.

Answer 252

Cystic fibrosis.

Answer 253

Congenital abnormality in the structure or function of cilia lining the respiratory tract, resulting in impaired mucociliary clearance. Causes recurrent infections and may present with recurrent productive cough, purulent nasal discharge and chronic ear infections. It can progress to severe bronchiectasis.

Answer 254

IgG deficiency - polysaccharide-capsulated bacteria (e.g. S. pneumoniae) Cell-mediated immunodeficiencies - opportunistic infections (e.g. PCP) Neutrophil killing defects - Staphylococcus

Answer 255

Neuromuscular disease (e.g. Duchenne) Craniofacial abnormalities (e.g. Pierre Robin sequence) Dystonia of upper airway muscles (e.g. cerebral palsy) Severe obesity Down's syndrome

Answer 256

Vernix caseosa.

Answer 257

Thin, poorly keratinised and transepidermal water loss is markedly increased. NOTE: Thermoregulation is also impaired as the preterm infant lacks subcutaneous fat and unable to sweat until a few weeks old.

Answer 258

``` S. aureus Systemic antibiotics (e.g. flucloxacillin) ```

Answer 259

Melanocytic naevi.

Answer 260

Family history Large numbers of melanocytic naevi (moles) Fair skin Repeated episodes of sunburn Living in a hot climate with repeated sun exposure

Answer 261

Caused by defect in biosynthesis and distribution of melanin. Can be categorised as: Oculocutaneous Ocular Partial Lack of pigment in the iris, retina, eyelids and eyebrows results in failure to develop a fixation reflex. It also causes pendular nystagmus.

Answer 262

Fingers and toes can become fused Contractors of the limbs may develop from repeated blistering and healing Mucous membrane involvement may result in oral ulceration and stenosis form oesophageal erosions

Answer 263

A rare manifestation of the inherited ichthyoses where infants are born with taut, shiny, parchment-like skin. There is a risk of dehydration.

Answer 264

``` Common: Irritant (contact) dermatitis - most common cause Infantile seborrheic dermatitis Candida infection Atopic eczema ``` Rare: Acrodermatitis enteropathica Langerhans cell histiocytosis Wiskott-Aldrich syndrome NOTE: Irritant dermatitis is usually due to the irritant effects of urine on the skin, and flexures tend to be spared.

Answer 265

Nappy rash caused by satellite lesions and does affect the flexures. It is treated with topical antifungals (imidazole).

Answer 266

presents in the first 3 months of life and tends to start on the scalp (cradle cap). It is NOT itchy. NOTE: You may consider using topical imidazole if conservative measures are not effective at treating.

Answer 267

Staphylococcus and streptococcus infections. NOTE: Herpes simplex virus can cause eczema herpeticum which is potentially serious (treat with aciclovir).

Answer 268

The Children's Dermatology Life Quality Index (CDLQI).

Answer 269

All: Emollients. Mild: 1% hydrocortisone. Moderate: 0.025% betamethasone validate or 0.05% clobetasone butyrate Consider non-sedating antihistamine (if itchy) e.g. cetirizine 2nd line = topical calcineurin inhibitor e.g. tacrolimus Severe: 0.1% betamethasone Consider non-sedating antihistamine (or sedating antihistamine if sleep is affected by itching) Consider oral corticosteroids in very severe cases Infected: Swab infected skin 1st line = flucloxacillin (use erythromycin if allergic) no longer than 2 weeks

Answer 270

Egg | Cow's milk

Answer 271

``` Cause: HPV Found on: Fingers and soles (verrucae) Treatments: 1. Daily administration of salicylic acid or lactic acid or glutaraldehyde lotion 2. Cryotherapy with liquid nitrogen ```

Answer 272

Caused by a poxvirus. Lesions are small, skin-coloured, pearly papule with central umbilication. Spontaneously resolves within 18 months.

Answer 273

Cause: Dematophyte fungi invade dead keratinous structures such as the horny layer of the skin, nails and hair. Appearance: Annular lesion - a severely inflamed pustular patch is called a kerion. Rapid diagnosis: Examination of skin scrapings for fungal hyphae. Definitive diagnosis: Culture the fungus.

Answer 274

Capitis: Systemic anti fungal therapy with griseofulvin or terbinafine 2nd line = itraconazole or fluconazole (Consider topical antifungal shampoo) Other forms of tinea: Topical antifungals (e.g. terbinafine, naftifine, butenafine) Topical aluminium acetate

Answer 275

Cause: Sarcoptes scabiei mite. Itching: Occurs 2-6 weeks after infestation. Is worse in warm conditions and at night. Treatment = topical insecticide: 1st line = permethrin 5% cream. 2nd line = malathion aqueous 0.5%. Apply all over body from chin and ears downwards, and wash off after 8-12 hours (permethrin) or 24 hours (malathion) Apply for a second time, one week after first application

Answer 276

Crotamiton 10% cream (or topical hydrocortisone).

Answer 277

Head lice. Management: Dimeticone 4% lotion or aqueous solution of malathion 0.5% rubbed into scalp and left overnight before washing hair in the morning. Repeat one week later. Wet combing with a fine-tooth comb can remove live lice every 3-4 days for 2 weeks.

Answer 278

Age: rarely presents below 2 years old. Lesions: Small, raindrop-like, round or oval erythematous scaly patches on trunk and upper limbs. Most common in children: guttate - often follows streptococcal or viral sore throat or ear infection. Treatment of guttate psoriasis: bland ointments. NOTE: Plaque psoriasis can be treated with coal-tar preparations, dithranol or calcipotriol.

Answer 279

Begins with herald patch - a single round scaly macule, usually 2-5m in diameter on the trunk, upper arm, neck or thigh. Pattern of spread - follows the line of the ribs posteriorly (fir tree pattern). No treatment required - resolves within 4-6 weeks.

Answer 280

Alopecia areata.

Answer 281

Annular, with raised flesh-coloured non-scaling edge (usually found over bony prominences, especially on the hands and feet).

Answer 282

Open comedones = blackheads Closed comedones = whiteheads NOTE: These can progress to papule, pustules, nodules and cysts.

Answer 283

Mild to moderate acne - topical treatment: Benzoyl peroxide Benzoyl peroxide + clindamycin (Duac) Adapaline (topical retinoid) - contraindicated in breastfeeding and pregnancy Azelaic acid Moderate acne not responding to topical treatments: Consider adding oral antibiotics (lymecycline or doxycycline) for maximum 3 months Change to alternative antibiotic if not successful Severe acne or non-responsive acne: Refer to specialist for treatment with isotretinoin (roaccutane) NOTE: COCP in combination with topical agents can be used as an alternative to systemic antibiotics in girls.

Answer 284

Acne conglobata | Acne fulminans

Answer 285

A rare autosomal dominant disorder caused by deficiency or dysfunction of C1-esterase inhibitor. There is no urticaria, but subcutaneous swellings occur, often accompanied with abdominal pain. Treated with a purified preparation of the inhibitor.

Answer 286

PC: Breathlessness Examples: Ventricular septal defect Persistent ductus arteriosus Atrial septal defect

Answer 287

PC: Cyanosis (blue) Examples: Tetralogy of Fallot Transposition of the great arteries

Answer 288

Atrioventricular septal defect (complete)

Answer 289

Conditions: Pulmonary stenosis Aortic stenosis Presentation: Asymptomatic with a murmur

Answer 290

Coarctation of the aorta.

Answer 291

Within the first few hours or days of life.

Answer 292

18-20 weeks - it leads to diagnosis of 70% of infants requiring surgery in the first 6 months.

Answer 293

Percentage: 30% ``` Hallmarks: Asymptomatic Soft blowing murmur Systolic murmur only, not diastolic Left sternal edge ``` They are generally heard best during febrile illness or anaemia due to increased cardiac output.

Answer 294

Because pulmonary vascular resistance is still high - this falls over the first weeks of life, so conditions such as VSD and PDA may present then.

Answer 295

``` Signs: Poor weight gain or faltering growth Tachypnoea Tachycardia Heart murmur, gallop rhythm Cardiomegaly Hepatomegaly Cool peripheries ``` ``` Symptoms: Breathlessness Sweating Poor feeding Recurrent chest infections ```

Answer 296

``` Neonates - obstructed (duct-dependent) systemic circulation: Hypoplastic left heart syndrome Critical aortic valve stenosis Severe coarctation of the aorta Interruption of the aortic arch ``` Infants - high pulmonary blood flow: VSD Atrioventricular septal defect Large persistent ductus arteriosus Older children and adolescents - right or left heart failure: Eisenmenger syndrome (RHF only) Rheumatic heart disease Cardiomyopathy

Answer 297

Left heart obstruction Left-to-right shunt

Answer 298

A process in neonates in which long-standing left-to-right shunting of blood causes pulmonary hypertension and eventual reversal of the shunt into a cyanotic right-to-left shunt - this causes cyanosis. The only treatment option is heart-lung transplant.

Answer 299

Reduce preload: Diuretics (e.g. furosemide) (More rarely) venous dilators (e.g. nitroglycerin) Enhance cardiac contractility: IV agents such as dopamine Other options: Digoxin, dobutamine, adrenaline, milrinone Reduce afterload: Oral ACE inhibitors IV agents such as hydralazine, nitroprusside and alprostadil Improve oxygen delivery: Beta-blockers (e.g. carvedilol)

Answer 300

Congenital cyanotic heart disease Respiratory disorders (e.g. respiratory distress syndrome meconium aspiration, pulmonary hypoplasia) Persistent pulmonary hypertension of the newborn (failure of pulmonary vascular resistance to fall after birth) Infection (e.g. septicaemia) Inborn errors of metabolism (metabolic acidosis and shock)

Answer 301

Secundum ASD (80%) - defect in the centre of the atrial septum, involving the foramen ovale. Partial AVSD - defect in the atrioventricular septum: - Primum ASD - There is an interatrial communication between the bottom end of the atrial septum and the atrioventricular valves - Regurgitant valve - there are abnormal AV valves, with a left AV valve which has 3 leaflets and tends to lead

Answer 302

Symptoms: None (common) Recurrent chest infections/wheeze Arrhythmias (4th decade onwards) Signs: Ejection systolic murmur (best heard on upper left sternal edge) - due to increased flow across the pulmonary valve because of left-to-right shunt Fixed and widely split second heart sound - due to right ventricular stroke volume being equal in both inspiration and expiration Apical pansytolic murmur (form AV valve regurgitation) - only heard in partial AVSD

Answer 303

Cardiomegaly Enlarged pulmonary arteries Increased pulmonary vascular markings

Answer 304

Partial RBBB and right axis deviation (due to right ventricular enlargement).

Answer 305

Superior QRS - this occurs due to a defect in the middle of the heart where the AV node is found. This displaced node then conducts to the ventricles superiorly, resulting in an abnormal axis.

Answer 306

Secundum ASD - percutaneous close/endovascular closure Partial AVSD - surgical correction

Answer 307

Based on size: Small = smaller than the aortic valve (usually < 3mm diameter) Large = larger than aortic valve

Answer 308

Loud pansystolic murmur at lower left sternal edge (loud murmur implies smaller defect) Quiet pulmonary second sound (P2)

Answer 309

``` Signs: Tachypnoea, tachycardia and hepatomegaly from heart failure Active precordium Soft pan systolic murmur or no murmur Apical mid-diastolic murmur Loud pulmonary second sound (P2) ``` Symptoms: Heart failure with breathlessness and faltering growth after 1 week old Recurrent chest infections

Answer 310

``` CXR: Cardiomegaly Enlarged pulmonary arteries Increased pulmonary vascular markings Pulmonary oedema ``` ECG: Biventricular hypertrophy by 2 months of age

Answer 311

Diuretics (often captopril - for the heart failure) Additional calorie input Surgery at 3-6 months

Answer 312

Pulmonary artery Descending aorta 1 month

Answer 313

Clinical features: Continuous murmur below left clavicle - continues into diastole because pulmonary arterial pressure is always lower than aortic pressure Increased pulse pressure (causing bounding pulse) Management: Closure using could or occlusive device introduced through a cardiac catheter at about 1 year of age - this is necessary to abolish lifelong risk of bacterial endocarditis or pulmonary vascular disease.

Answer 314

``` The hyperoxia (nitrogen washout) test: The infant is placed in 100% oxygen for 10mins - if the right radial arterial PaO2 remains low (< 15kPa), a diagnosis of cyanotic congenital heart disease can be made. ``` NOTE: Lung disease and persistent pulmonary hypertension must be excluded.

Answer 315

ABC - stabilise with artificial ventilation if necessary | Start prostaglandin infusion (5ng/kg/minute)

Answer 316

``` Apnoea Jitteriness Seizures Flushing Vasodilation Hypotension ```

Answer 317

Tetralogy of Fallot

Answer 318

Large VSD Overriding aorta with respect to the ventricular septum Sub-pulmonary stenosis causing right ventricular outflow tract obstruction Right ventricular hypertrophy

Answer 319

They can lead to MI, cerebrovascular accidents and death.

Answer 320

Clubbing will develop in older children | Loud harsh ejection systolic murmur at left sternal edge from day 1 of life

Answer 321

Relatively small heart May have an up-tilted apex due to right ventricular hypertrophy Pulmonary artery bay - a concavity on the left heart border where normal pulmonary artery and right ventricular outflow tract should be Decreased pulmonary vascular markings

Answer 322

Sedation and pain relief (morphine) IV propranolol (peripheral vasoconstrictor) IV fluids Bicarbonate to correct acidosis Muscle paralysis and artificial ventilation to reduce metabolic oxygen demand

Answer 323

A condition in which the main ateriees are connected the wrong way: Aorta --> Right ventricle Pulmonary artery --> Left ventricle This means that deoxygenated blood is returned to the body and oxygenated blood is returned to the lungs - it is not compatible with life.

Answer 324

Narrow mediastinum with egg on side appearance of the cardiac shadow Increased pulmonary vascular markings

Answer 325

``` Prostaglandin infusion (maintain patent PDA) Balloon atrial septostomy - breaks the flap valve of the foramen ovale and encourages mixing of blood All patients will require surgery - arterial switch procedure in the neonatal period ```

Answer 326

30-40 years - the patients will die of right heart failure, which is why we aim to prevent Eisenmenger syndrome with early intervention for high pulmonary blood flow.

Answer 327

Down syndrome Defect in the middle of the heart with a single five-leaflet valve between the atria and the ventricles - it stretches across the entire AV junction and tends to leak and can lead to pulmonary hypertension.

Answer 328

ECG = superior axis. Management = treat heart failure medically and surgically repair defect at 3-6 months.

Answer 329

Tricuspid atresia (most common) Mitral atresia Double inlet left ventricle Common arterial trunk (truncus arteriosus)

Answer 330

Complete absence of the tricuspid valve - in this condition, only the left ventricle is effective (the right is small and non-functional). It presents with cyanosis.

Answer 331

Early palliation to maintain a secure supply of blood to the lungs at low pressure by: Black-Taussig shunt insertion (between subclavian and pulmonary arteries) Pulmonary artery banding operation to reduce pulmonary blood flow if breathless Operations can be performed to connect the SVC to the pulmonary artery (Glenn) and the IVC to the pulmonary artery (Fontan). NOTE: Complete corrective surgery is not possible in most cases because there is only one functioning ventricle.

Answer 332

Aortic stenosis = aortic valve leaflets are partly fused together, restricting outflow from the left ventricle. Associations: Mitral valve stenosis Coarctation of the aorta

Answer 333

``` Signs: Small volume, slow rising pulse Carotid thrill (ALWAYS) Ejection systolic murmur (maximal at right sternal edge and radiating to carotids) Delayed and soft aortic second sound Apical ejection click ``` Symptoms: Reduced exercise tolerance Chest pain Syncope

Answer 334

Regular clinical/echocardiographic monitoring Balloon valvulotomy (if high resting pressure gradient or symptomatic on exercise) Aortic valve replacement (eventually)

Answer 335

Pulmonary stenosis = pulmonary valve leaflets are partly fused together and restricting right ventricular outflow. Signs: Ejection systolic murmur (best heard at upper left sternal edge) Ejection click (best heard at upper left sternal edge) Prominent right ventricular heave - only if severe

Answer 336

If the pressure gradient across the pulmonary valve is markedly increased (> 64mmHg), intervention is needed. Transcatheter balloon dilatation is the treatment of choice.

Answer 337

Gradual progression Asymptomatic Systemic hypertension in right arm Ejection systolic murmur at upper sternal edge Collateral heard with continuous murmur at the back Radio-femoral delay

Answer 338

``` Rub notching (due to development of large collateral intercostal arteries running under the ribs to bypass the coarctation) 3 sign (visible notch in the descending aorta) ```

Answer 339

Coarctation of the aorta Interruption of the aortic arch Hypoplastic left heart syndrome

Answer 340

Restriction of the aorta due to arterial duct tissue encircling the aorta just at the point of insertion of the duct. It usually presents with acute circulatory collapse at 2 days when the duct closes.

Answer 341

A rare condition in which there is no connection between the proximal aorta and distal to the ductus arteriosus. It usually presents with shock in the neonatal period, and is often associated with other conditions such as Di George syndrome.

Answer 342

There is no flow through the left side of the heart, so ductal constriction leads to profound acidosis and rapid cardiovascular collapse. Management = Surgery (Norwood procedure).

Answer 343

As a cyclical change in heart rate with respiration - acceleration during inspiration and slowing on expiration.

Answer 344

Superventricular tachycardia

Answer 345

Presentation: Symptoms of heart failure as it can cause poor cardiac output and pulmonary oedema. ECG: Narrow complex tachycardia of 250-300bpm Possible P waves Possible features of myocardial ischaemia Possible delta waves (in Wolff-Parkinson-White syndrome) Management: Correct tissue acidosis Give positive pressure ventilation Vagal manoeuvres (carotid massage, cold ice pack to face) IV adenosine (IMPORTANT) - if this fails, use electrical cardioversion Once sinus rhythm is restored, maintenance therapy with flecainide or sotalol is required

Answer 346

Congenital complete heart block - it is usually related to presence of anti-Ro or anti-La antibodies in maternal serum. May be asymptomatic for years, or may present with syncope. Can be treated with endocardial pacemaker insertion.

Answer 347

Long QT syndrome - it presents late in childhood with sudden loss of consciousness during exercise, stress or emotion. Follows an autosomal dominant inheritance pattern, and is associated with erythromycin therapy, electrolyte disorders and head injury.

Answer 348

Loss of consciousness caused by transient impairment of brain oxygen delivery, usually due to impaired cerebral perfusion. It can be neurally mediated (e.g. standing up too quickly or seeing blood) or cardiac.

Answer 349

A short-lived, multi system autoimmune response to a preceding infection with group A beta-haemolytic streptococcus. It progresses to chronic rheumatic heart disease in up to 80% of cases.

Answer 350

Jones criteria.

Answer 351

Mitral stenosis.

Answer 352

Bed rest Anti-inflammatory agents (high dose aspirin) Anti-streptococcal antibiotics (penicillin V, benzathine benzylpenicillin, amoxicillin) if persistent Corticosteroids if the fever/inflammation does not resolve rapidly Symptomatic heart failure is treated with diuretics and ACE inhibitors Prevention of recurrence with monthly benzathine penicillin injection (for 10 years or until aged 21) Surgical valve replacement or repair may be required

Answer 353

Multiple blood cultures (BEFORE starting antibiotics) Detailed echocardiography Acute phase reactants will be raised (CRP, ESR, WCC)

Answer 354

Strep. viridans (alpha-haemolytic strep).

Answer 355

``` MDT approach Empirical antibiotics (high dose penicillin with an aminoglycoside for 6 weeks) - consult infectious disease specialist ```

Answer 356

Causes: Inherited Secondary to metabolic disease Direct viral infection of myocardium Management: Diuretics, ACE inhibitors and carvedilol

Answer 357

Idiopathic Post-tricuspid shunts (VSD, AVSD, PDA) HIV Persistent pulmonary hypertension of the newborn

Answer 358

Left-sided heart disease | Pulmonary vein stenosis or compression

Answer 359

Chronic obstructive lung disease or bronchopulmonary dysplasia in preterm infants Interstitial lung disease OSA oe upper airway obstruction

Answer 360

Inhaled nitric oxide IV magnesium sulphate Oral phosphodiesterase inhibitors

Answer 361

Mesenchymal gubernaculum

Answer 362

Processus vaginalis Hydrocele Hernia

Answer 363

Most common cause: Persistently patent processes vaginalis. Presentation: Often asymptomatic, but can present as lump in there groin. Medical term: Taxis. Surgery: Ligation and division of the processus vaginalis.

Answer 364

You can get above a hydrocele but not a hernia. Hydroceles also transilluminate.

Answer 365

Because the processus vaginalis is often patent at birth, but closes within months.

Answer 366

< 2 years old: Most resolve spontaneously before the age of 2 so observation is appropriate if there is not evidence of underlying pathology. ``` 2-11 years old: Open repair Laparoscopic exploration Bilateral repair NOTE: Abdominoscrotal hydroceles require surgery through an abdominal incision. ``` 11-18 years old: Idiopathic hydrocele - observation is appropriate, however, surgery may be considered if large or uncomfortable Hydrocele after varicocelectomy - conservative, but consider surgery in cases that don't resolve Filarial-related hydrocele - complete excision of tunica vaginalis

Answer 367

How common: 15% of boys, usually presenting at puberty Cause: Dilated testicular veins - it is multifactorial but valvular incompetence plays a role Most common side: Left - draining of the gonadal vein into the left renal vein, which also receives blood containing catecholamines form the left adrenal vein Presentation: Dull ache (but often asymptomatic) Examination: 'Bag of worms' Management: Occlusion of gonadal veins by surgical ligation

Answer 368

How common: 5% of newborn term infants (more common in premature babies) Difference between undescended and retractile: Retractile testis can be manipulated into the scrotum with ease and without tension Management: < 3 months old: Refer to senior paediatrician for testing if there is the possibility of a disorder of sexual development, or if it is bilateral If unilateral undescended testis at birth, assess again in 6-8 weeks, and if necessary, again at 3 months At 3 months: If still undescended, refer to paediatric surgeon before 6 months of age NOTE: Surgery of choice = orchidopexy (placement of testis in the scrotum) - performed for cosmetic reasons, to reduce risk of trauma/torsion, for fertility and to reduce risk of malignancy.

Answer 369

Post-pubertal

Answer 370

Because pain from testicular torsion can localise to the lower abdomen.

Answer 371

Where the testis is lying transversely on it'd attachment to the spermatic cord - patients with bell clapper testes are at higher risk of testicular torsion.

Answer 372

Manual detortion. NOTE: You should also give pain relief and anti-emetics.

Answer 373

Called hydratids of Morgagni, they are Mullerian (paramesonephric) remnants usually located on the upper pole of the testis.

Answer 374

It presents as pain, but develops over days and is not as dramatic as testicular torsion. It is treated with scrotal exploration and excision of the appendage because it cannot often be reliably differentiated from testicular torsion.

Answer 375

Investigations: Doppler ultrasound - to look at flow pattern in testicular blood vessels Urine sample - identify any associated UTI Pus should be sent at operation for microbiology to characterise the nature of the infection Management: Symptomatic relief Empirical antibiotics - quinolone for enteric organisms, ceftriaxone and doxycycline for gonococcus or chlamydia

Answer 376

Ammoniacal dermatitis (napkin rash)

Answer 377

Balanoposthitis - this is more extensive that ammoniacal dermatitis and may also have purulent discharge (treat with antibiotics).

Answer 378

Lysis of the preputial adhesions before those at the preputial opening - this will stop when the adhesions have lysed completely.

Answer 379

Mostly desquamated skin and secretions - it is nothing to worry about and will resolve in due course as preputial adhesions break down.

Answer 380

Balanitis xerotica obliterans - this usually affects older boys and adults, and is an indication for circumcision. It can cause scarring which extends onto the glans, into the meatus and into the urethra.

Answer 381

When a retracted foreskin cannot be reduced easily - there is a ring of narrower skin that makes the glans swell and may result in compromise of the blood supply to the glans if it is not reduced. It usually occurs in the post-pubertal boys. In an emergency situation, treatment is by surgical reduction.

Answer 382

Judaism | Islam

Answer 383

Cause: Failure of development of the ventral tissues of the penis (in particular, failure of ventral urethral closure) Three features: Ventral urethral meatus Ventral curvature of the shaft of the penis Hooded appearance of the foreskin Why not circumcise before repair? Because the skin is important for the repair.

Answer 384

Vaginal rhabdomyosarcoma.

Answer 385

Topical steroids or oestrogens.

Answer 386

Presentation: Primary amenorrhoea in adolescence.

Answer 387

Imperforate hymen. Treatment is a hymenotomy under anaesthesia.

Answer 388

80-120ml/min per 1.73m^2

Answer 389

Plasma creatinine concentration.

Answer 390

eGFR = k x height (cm) / creatinine (micromol/L)

Answer 391

Requires timed urine collection and blood tests - inconvenient and inaccurate.

Answer 392

It begins to rise before creatinine does.

Answer 393

Ultrasound.

Answer 394

DMSA scan - these are very sensitive so need to wait at least 2 months after a UTI to avoid diagnosing 'false scars'.

Answer 395

Micturating cystourethrogram (MCUG) - requires contract to be introduced into the bladder through a urethral catheter, so it invasive and unpleasant.

Answer 396

MAG3 renogram - MAG3 is excreted from the blood into the kidneys, but scan must be performed with high urine flow, so scanning during micturition is useful and requires the patient to be old enough to cooperate (>4 years old).

Answer 397

``` Renal agenesis Multicystic dysplastic kidney Horseshoe kidney Duplex system Bladder exstrophy Obstruction of urine flow ```

Answer 398

Amniotic fluid is mainly derived from foetal urine, so the absence of both kidneys leads to oligohydramnios, resulting in Potter sequence (which can be fatal).

Answer 399

Intrauterine compression of the foetus from oligohydramnios caused by lack of foetal urine causes characteristic facies, lung hypoplasia and postal deformities including severe talipes - the infant may be stillborn or die soon after birth from respiratory failure.

Answer 400

Low-set ears Beaked nose Prominent epicanthic folds and downward slant to eyes

Answer 401

The ureteric bud and the nephrogenic mesenchyme.

Answer 402

Main symptom: Hypertension Extra-renal features: Liver/pancreatic cysts Cerebral aneurysms (beri aneurysms) Mitral valve prolapse

Answer 403

Tuberous sclerosis.

Answer 404

Due to abnormal caudal migration, the lower poles of the 2 kidneys fuse in the midline - this may predispose to infection or urinary obstruction.

Answer 405

Problem: May cause obstruction of urine flow. Ureteroceoele: May be formed as the ureter from the upper pole may drain ectopically into the urethra or vagina or may prolapse into the bladder.

Answer 406

What is it? Exposed bladder mucosa caused by failure of fusion of the infraumbilical midline structures. Association: Cryptorchism (absence of one or both testes in the scrotum). Megacystis-megaureter: Large bladder with dilated ureters caused by absence or severe deficiency of the anterior abdominal wall muscles.

Answer 407

Posterior urethral valves can cause severe urinary outflow obstruction resulting in progressive bilateral hydronephrosis, poor renal growth and declining liquor volume, with the potential to lead to pulmonary hypoplasia. Antenatal treatment: intrauterine bladder drainage. Postnatal treatment: cystoscopic ablation.

Answer 408

It may damage the kidney, causing scarring - if this is bilateral is can predispose to hypertension and progressive CKD.

Answer 409

Clean-catch sample into a waiting clean pot when the nappy is removed. NOTE: Other options include adhesive bag applied to perineum, urethral catheter (if urgent) or suprapubic aspiration (if severely ill).

Answer 410

> 10^5 per millilitre

Answer 411

Leucocyte esterase Nitrite NOTE: Leucocyte esterase + nitrites = start abx.

Answer 412

E. coli Klebsiella Proteus (more common in boys, and predisposes to phosphate stones) Pseudomonas (may indicate structural abnormality) S. faecalis

Answer 413

Cause: Developmental abnormality of the vesicoureteric junctions in which the ureters are displaced laterally and enter directly into the bladder (rather than at an angle) Serious complication: Renal dysplasia Prognosis: Tends to resolve with age

Answer 414

Seriously ill or septicaemia Poor urine flow Abdominal or bladder mass Raised creatinine Failure to respond to suitable antibiotics within 48 hours Infection with atypical (non-E. coli) organisms

Answer 415

Refer immediately to hospital Give IV antibiotics (e.g. co-amoxiclav) for 5-7 days minimum Follow-up with oral prophylactic antibiotics

Answer 416

If dipstick is positive for leucocyte esterase or nitrites, send urine for culture and start antibiotic therapy Give oral antibiotics (e.g. trimethoprim for 7 days) - if oral cannot be given, give IV (e.g. co-amoxiclav)

Answer 417

Bacteriuria + fever > 38 degrees or loin pain

Answer 418

Oral antibiotics (e.g. trimethoprim or nitrofurantoin) for 3 days

Answer 419

Lactobacillus acidophilus

Answer 420

Lack of attention to bladder control Detrusor instability (sudden urge to void induced by bladder contractions) Bladder neck weakness Neuropathic bladder (bladder is enlarged and fails to empty properly, irregularly thick wall, associated with spina bifida and other neurological conditions) UTI Constipation Ectopic ureter (causes constant dribbling)

Answer 421

Start charts Bladder training Pelvic floor exercise Anticholinergic drugs (e.g. oxybutinin) - reduce bladder contractions

Answer 422

Loss of previously achieved urinary incontinence for at least 6 months. Causes: Emotional upset (most common) UTI Polyuria from osmotic diuresis (e.g. diabetes mellitus, diabetes insipidus, CKD)

Answer 423

5 years maximum.

Answer 424

1st line: Enuresis alarm with positive reward system. 2nd line: Desmopressin (fluid should be restricted 1 hour before desmopressin until 8 hours after). NOTE: TCAs and antimuscarinics may be considered in special cases.

Answer 425

Education and Resources for Improving Childhood Continence (a support foundation for children with urinary incontinence)

Answer 426

By measuring the urine protein-to-creatinine ratio in an early morning sample (normal protein : creatinine is < 20mg/mmol).

Answer 427

Orthostatic proteinuria - proteinuria only found when child is stood up (good prognosis, no investigation necessary) Glomerular abnormalities - minimal change disease, glomerulonephritis, abnormal glomerular basement membrane Increased GFR Reduced renal mass in CKD Hypertension Tubular proteinuria

Answer 428

Proteinuria Hypoalbuminaemia Oedema

Answer 429

Periorbital oedema (worse in morning, usually earliest sign) Scrotal or vulva, leg and ankle oedema Asictes Breathlessness due to pleural effusion and abdominal distension Infection such as peritonitis or sepsis due to loss of protective immunoglobulins in the urine

Answer 430

Association: Atopy Precipitated by: Respiratory infections ``` Features: Age 1-10 years No macroscopic haematuria Normal BP Normal complement levels Normal renal function ```

Answer 431

``` Oral steroids (60mg/m^2 per day of prednisolone) Reduce dose after 4 weeks Renal biopsy for those who do not respond to 4-6 weeks of corticosteroids or have atypical features ```

Answer 432

``` Hypovolaemia: Abdominal pain Low urine sodium (< 10 mmol/L) High haematocrit Treat with IV 0.9% saline (IV 20% albumin infusion with furosemide if severe) ``` Thrombosis: Caused by urinary loss of antithrombin III, thrombocytosis, increased synthesis of clotting factors and increased blood viscosity from raised haematocrit. ``` Infection: Capsulated bacteria (especially pneumococcus) ``` Hypercholesterolaemia: Correlates inversely with serum albumin Cause is unknown

Answer 433

Focal segmental glomerulosclerosis - can be familial or idiopathic, and 30% progress to end-stage renal failure within 5 years. Other causes include: Mesangiocapillary glomerulonephritis Membranous nephropathy (associated with hep B, ands may precede SLE)

Answer 434

First 3 months of life - it is more common in consanguineous families and has high mortality.

Answer 435

Brown urine Presence of deformed red cells Casts Often accompanied by proteinuria

Answer 436

Red urine Occurs at beginning or end of urinary system NOT accompanied by proteinuria Unusual in children

Answer 437

``` Glomerular: Acute glomerulonephritis Chronic glomerulonephritis IgA nephropathy Familial nephritis (e.g. Alport syndrome) Thin basement membrane disease ``` ``` Non-glomerular: Infection Trauma to genitalia Stones Tumours Sickle cell disease Bleeding disorders Renal vein thrombosis Hypercalciuria ```

Answer 438

``` Post-infectious Vasculitis IgA nephropathy Mesangiocapillary glomerulonephritis Goodpasture syndrome ```

Answer 439

Increased glomerular cellularity restricts glomerular blood flow, and therefore GFR is decreased. This leads to decreased urine output and volume overload, hypertension, oedema, haematuria and proteinuria.

Answer 440

Anti-streptolysin O titre - detects group A strep Anti-DNAse B titres - also detects group A beta-haemolytic strep Low C3 levels

Answer 441

Purpuric rash over extensor surfaces (particularly buttocks and legs, trunk is often spared) Arthralgia Colicky abdominal pain Periarticular oedema Glomerulonephritis (Often preceded by upper respiratory tract infection)

Answer 442

IgA and IgG interact to produce complexes that activate complement and are deposited in affected organs, causing vasculitis.

Answer 443

Episodes of macroscopic haematuria NOTE: It is associated with upper respiratory tract infections.

Answer 444

Alport syndrome Inheritance: X-linked recessive Associations: Sensorineural deafness Ocular defects Prognosis: Leads to end-stage CKD in early adult life

Answer 445

Corticosteroids Plasma exchange IV cyclophosphamide

Answer 446

Autoantibodies = anti-dsDNA Biopsy indications = haematuria and proteinuria NOTE: C3 and C4 will be low.

Answer 447

BP above the 95th centile for height, age and sex.

Answer 448

Renal parenchymal disease Renovascular (e.g. renal artery stenosis) PKD Renal tumours

Answer 449

``` Unilateral: Muticystic kidney Compensatory hypertrophy Obstructed hydronephrosis Wilms tumour Renal vein thrombosis ``` Bilateral: Polycystic kidneys (most common cause of bilateral enlarged kidneys is autosomal recessive PKD) Tuberous sclerosis Renal vein thrombosis

Answer 450

Most common type of stone: Phosphate stones - these are associated with infection with proteus bacteria. ``` Presentation: Haematuria Loin/abdominal pain UTI Passage of stone ``` Management: Conservative - IV fluids, analgesia (morphine) and anti-emetics (ondansetron) Bacterial infection - antibiotics (co-trimoxazole or nitrofurantoin) or surgical decompression Small stones - medical expulsive therapy with tamsulosin Larger stones or those that do not pass spontaneously -surgical removal by ESWL (shock waves) or ureteroscopy

Answer 451

Nephrocalcinosis is deposition of calcium in the renal parenchyma. It may occur in hypercalciuria, hyperoxaluria and vital renal tubular acidosis (may be a complication of furosemide therapy in neonates).

Answer 452

Fanconi syndrome - proximal tubule cells are very metabolically active. Key features: Excessive urinary loss of amino acids, glucose, phosphate, bicarbonate, sodium, calcium, potassium and magnesium. ``` Presentation: Polydipsia and polyuria Salt deprivation/dehydration Hyperchloraemic metabolic acidosis Rickets Faltering/poor growth ``` Causes: Idiopathiic Secondary to inborn errors of metabolism (e.g. Wilson's disease) Acquired - heavy metals, drugs/toxins, vitamin D deficiency

Answer 453

Pre-renal (most common in children): Hypovolaemia Circulatory failure Renal: Vascular (e.g. HUS, vasculitis, renal vein thrombosis) Tubular (e.g. acute tubular necrosis, ischaemic, toxic, obstructive) Glomerular (glomerulonephritis) Interstitial (e.g. interstitial nephritis, pyelonephritis) Post-renal: Obstruction (congenital or acquired)

Answer 454

``` General: Diuretics when necessary Fluid restriction can be helpful Consider referral to renal replacement therapy if non-responsive to therapy Consider dialysis ``` Pre-renal failure: Address hypovolaemia with fluid replacement and circulatory support. Renal failure: Monitor water and electrolyte balance High calorie, normal protein feed Management of metabolic abnormalities Post-renal failure: Refer straight to urology Assess site of obstruction May require nephrostomy or bladder catheterisation

Answer 455

``` Failure of conservative management Hyperkalaemia Severe hyponatraemia/hypernatraemia Pulmonary oedema or severe hypertension Severe metabolic acidosis Multisystem failure ```

Answer 456

Acute renal failure MAHA Thrombocytopaenia

Answer 457

E. coli O157:H7 (it can also occur with shigella).

Answer 458

Bloody diarrhoea Endothelial cells - this localisation leads to intravascular thrombogenesis where the clotting cascade is activated and clotting is NORMAL (unlike DIC).

Answer 459

Because red blood cells are damaged as they circulate through occluded microvasculature.

Answer 460

Consult nephrology and haematology Admit child to hospital Supportive care - monitor urine output, fluid balance, BP and hydration Dialysis (50% require this in the acute phase) Long-term follow-up due to risk of hypertension and progressive CKD

Answer 461

``` Anorexia Lethargy Polydipsia/polyuria Faltering growth Bony deformaties from renal osteodystrophy Hypertension Acute-on-chronic renal failure Proteinuria Normochormic, normocytic anaemia ```

Answer 462

Diet - calorie supplements or NG/gastrostomy feeding Prevention of renal osteodystophy - phosphate restriction (reduce milk) and vitamin D supplements Control salt and water balance, and acidosis - salt supplements and lots of water, bicarbonate supplements to prevent acidosis Acidosis - administer SC recombinant human EPO Hormonal abnormalities - recombinant human GH

Answer 463

Tacrolimus, mycophenolate mofetil and prednisolone.

Answer 464

``` Breastmilk jaundice Infection (particularly UTI) Haemolytic anaemia (e.g. G6PD deficiency) Hypothyroidism High GI obstruction Crigler-Najjar syndrome ```

Answer 465

Bile duct obstruction - biliary atresia or choledochal cyst Neonatal hepatitis syndrome - lots of causes including congenital infection, inborn errors of metabolism, alpha-1 antitrypsin deficiency and cystic fibrosis Intrahepatic biliary hypoplasia - Alagille syndrome

Answer 466

``` Assessment: Obstetric history - mothers' ABO blood group and rhesus status Age of onset and duration of jaundice Feeding history Number of wet nappies (hydration) Presence of dark urine/pale stools Vomiting Family history of haemolytic anaemias ``` Examine: Signs of illness Appropriate weight gain? Evidence of bruising (cephalhaematoma)

Answer 467

1. Serum bilirubin | 2. Transcutaneous bilirubinometer - if this reads > 250 micromol/L, measure serum bilirubin

Answer 468

Take bilirubin measurements and plot onto threshold table or treatment threshold graph.

Answer 469

Take repeat bilirubin measurements (within 18 hours if they have risk factors for neonatal jaundice, within 24 hours otherwise).

Answer 470

Take serum bilirubin 4-6 hours after starting phototherapy, and then every 6-12 hours when it is stable or falling. Stop phototherapy once serum bilirubin is at least 50 micromol/L below threshold. Check for rebound hyperbilirubinaemia by taking serum bilirubin at 12-18 hours after stopping phototherapy.

Answer 471

If serum bilirubin is rising rapidly (> 8.5 micromol/L per hour). Serum bilirubin within 50 micromol/L pf the threshold for exchange transfusion 72+ hours after birth. Failure to respond to phototherapy within 6 hours.

Answer 472

IVIG - used alongside intensified phototherapy in causes of rhesus haemolytic disease or ABO haemolytic disease where serum bilirubin is rising > 8.5 micromol/L per hour. Exchange transfusion - used if threshold is met on graph, or if baby has signs of bilirubin encephalopathy. Do not stop phototherapy during exchange transfusion, and measure serum bilirubin within 2 hours.

Answer 473

...progressive fibrosis and obliteration of the extra hepatic and intrahepatic biliary tree.

Answer 474

``` Presentation: Mild jaundice Pale stools Normal birthweight Faltering growth Heaptomegaly Splenomegaly develops due to portal hypertension ``` Investigations: Raised conjugated bilirubin Abnormal LFTs Fasting abdominal ultrasound - possible contracted or absent gall bladder Cholangiogram (either ERCP or operative) - DIAGNOSTIC Liver biopsy - neonatal hepatitis in early stages Management: Surgical intervention - Kasai hepatoportoenterostomy or liver transplantation.

Answer 475

``` Complications: Growth failure Portal hypertension Cholangitis Ascites (If untreated, chronic liver failure and death within 2 years) ``` Management: Ursodeoxycolic acid promotes bile flow Fat-soluble vitamin supplementation Breast milk or medium-chain triglyceride-enhanced formula for growth/nutrition Prophylactic antibiotics (co-trimoxazole) to prevent cholangitis

Answer 476

Definition: Cystic dilatation of the extra hepatic biliary system. Presentation: Antenatally detected Neonatal jaundice In older children, abdominal pain, palpable mass Diagnosis: Ultrasound orMRCP Treatment: Surgical excision with formation of Roux-en-Y anastomosis to the biliary duct Complications: Cholangitis, malignancy

Answer 477

A condition where there is prolonged neonatal jaundice and hepatic inflammation.

Answer 478

Clinical features: Triangular faces Skeletal abnormalities Congenital heart disease (peripheral pulmonary stenosis) Renal tubular acidosis Ocular defects Infants may be severely cholestatic with severe pruritus and faltering growth Investigations: Identifying gene mutations Management: Nutrition and fat-soluble vitamins (worst case = liver transplant)

Answer 479

Inheritance: Autosomal recessive ``` Clinical features: Jaundice Pruritus Faltering growth Rickets Diarrhoea Hearing loss Gallstones (in older children) ``` Diagnosis: Identifying mutation in bile salt transport genes Treatment: Nutritional support and fat soluble vitamins (liver transplant once fibrosis progresses)

Answer 480

Inheritance pattern: Autosomal recessive Pathophysiology: Abnormal folding of alpha-1 antitrypsin protein is associated with accumulation of the protein within hepatocytes leading to liver disease in infancy and early childhood. The lack of circulating alpha-1 antitrypsin leads to emphysema as neutrophils elastase is not neutralised.

Answer 481

Clinical features: Prolonged neonatal jaundice Bleeding (less common) due to vitamin K deficiency Hepatomegaly Splenomegaly develops with cirrhosis and portal hypertension Investigations: Alpha-1 antitrypsin levels in plasma.

Answer 482

``` Clinical features - when fed milk: Poor feeding Vomiting Jaundice Hepatomegaly ``` Investigations: Galactose in urine Galactose-1-phosphate-uridyl transferase in red cells Management: Galactose-free diet prevents liver disease Complications: Ovarian failure Learning difficulties

Answer 483

Nothing, it remains normal.

Answer 484

RNA virus Faecal-oral transmission Investigation = Anti-hep A IgM antibodies Management = Supportive (most cases are mild and recovery occurs within 2-4 weeks), vaccinate people travelling to endemic areas and close contacts of people with it

Answer 485

DNA virus Transmission: Vertical transmission, blood products, sexual transmission % who develop fulminant liver failure: 1-2% Investigations: HBV antigens and antibodies - IgM HBcAb are positive in acute infection and HBsAg is suggestive of ongoing infection Management: Acute - supportive care, antivirals (lamivudine, entecavir, tenofovir disoproxil), ? liver transplant Chronic - supportive care, interferon or antiviral monotherapy

Answer 486

Hepaticellular carcinoma

Answer 487

All pregnant women offered antenatal screening for HBsAg Babies of all HBsAg positive mothers should receive hep B vaccination Hep B immunoglobulin also given if the mother was HBeAg positive Other family members should also be vaccinated

Answer 488

RNA virus Transmission: IVDUs (blood products), vertical transmission (transmission is much more common in co-infection with HIV) 20-25% lifetime risk of cirrhosis or HCC Management: Pegylated interferon Ribavirin New drugs are particularly effective (e.g. sofosbuvir) NOTE: Treatment not given until > 3 years old as vertically acquired infections may resolve spontaneously.

Answer 489

RNA virus | 50-70% with chronic HDV develop cirrhosis

Answer 490

RNA virus Transmission: Faecal-oral (contaminated water), blood products, contaminated pork Particularly dangerous in pregnant women - causes fulminant hepatic failure with high mortality rate

Answer 491

When a viral hepatitis is suspected but not identified, we call it a seronegative hepatitis.

Answer 492

...massive hepatic necrosis with subsequent loss of liver function. (can be with or without hepatic encephalopathy)

Answer 493

``` < 2 years old: Infection (usually HSV) Metabolic disease Seronegative hepatitis Drug-induced Neonatal haemochromatosis ``` ``` > 2 years old: Seronegative hepatitis Paracetamol overdose Mitochondrial disease Wilson's disease Autoimmune hepatitis ```

Answer 494

``` Jaundice Encephalopathy Coagulopathy Hypoglycaemia Electrolyte disturbance ```

Answer 495

Cerebral oedema Haemorrhage from gastritis or coagulopathy Sepsis Pancreatitis

Answer 496

Acid-base balance Blood glucose Coagulation

Answer 497

Maintain blood glucose (> 4 mmol/L) with IV dextrose Prevent sepsis with broad-spectrum antibiotics/antifungals Prevent haemorrhage with IV vitamin K and H2 antagonists/PPIs Prevent cerebral oedema by fluid restriction and mannitol diuresis

Answer 498

Mean age of presentation: 7-10 years old More common in: Girls ``` Investigations: Elevated total protein Hypergammaglobulinaemia Positive autoantibodies Low serum C4 ``` Associations: IBD Coeliac disease (other autoimmune conditions) Management: Prednisolone and azathioprine Liver transplant in severe cases

Answer 499

``` Ursodeoxycholic acid (Liver transplant in severe cases) ```

Answer 500

Most common liver manifestation: hepatic steatosis (does not tend to process so treatment = nutritional support). Progressive biliary fibrosis can result from thick bile with abnormal bile acid concentration. 20% of children with CF develop cirrhosis and portal hypertension by mid-adolescence.

Answer 501

Inheritance pattern: Autosomal recessive. Pathophysiology: Gene defect results in reduced synthesis or caeruloplasmin and defective excretion of copper in the bile, leading to copper build-up in the liver, kidneys, brain and cornea. Neuropsychiatric features: Deterioration in school performance Mood and behaviour change Extrapyramidal signs (Parkinsonism)

Answer 502

Serum caeruloplasmin - low Serum copper - low Urinary copper - high (increases further on administration of penicillamine (a copper chelator)) Elevated hepatic copper on liver biopsy - DIAGNOSTIC Identification of gene mutation - DIAGNOSTIC

Answer 503

Zinc - blocks intestinal copper resorption Trientine - increases urinary copper excretion Pyridoxine (vitamin B6) - prevents peripheral neuropathy Liver transplant may be considered

Answer 504

They are a range of conditions affecting development of the intrahepatic biliary tree. Clinical features: Hepatosplenomegaly Abdominal distension Portal hypertension Histology: Large bands of hepatic fibrosis containing abnormal bile ductules. Complications: Portal hypertension with varices Recurrent cholangitis

Answer 505

Non-alcoholic fatty liver disease - it is a spectrum ranging from simple fatty deposition (steatosis) through to inflammation (steatohepatitis), fibrosis, cirrhosis and end-stage liver failure.

Answer 506

``` Weight loss Treatment of insulin resistance and diabetes Statins Vitamins E and C Ursodeoxycholic acid ```

Answer 507

``` Fat malabsorption Protein malnutrition Anorexia Pruritus Encephalopathy Cirrhosis and portal hypertension Oesophageal varices Ascites Spontaneous bacterial peritonitis Renal failure ```

Answer 508

Phenobarbital (stimulates bile flow) Cholestyramine (bile salt resin to absorb bile salts) Ursodeoxycholic acid (oral bile acid that solubilises the bile) Rifampicin (enzyme inducer)

Answer 509

Extensive fibrosis with regenerative nodules.

Answer 510

Consequence of portal hypertension. They can be diagnosed by upper GI endoscopy. Management: Acute bleeding - blood transfusions, H2 antagonists or omeprazole. Persistent bleeding - consider octreotide infusion, vasopresssin analogues, endoscopic band ligation or sclerotherapy.

Answer 511

Should be considered if there is undiagnosed fever, abdominal pain, tenderness or an unexplained deterioration in hepatic or renal function. Diagnosis = paracentesis - send for WCC, differential and culture. More than 250 neutrophils/mm^3 is diagnostic.

Answer 512

Severe malnutrition non-responsive to intensive nutritional therapy. Complications refractory to medical management (bleeding varices, resistant ascites etc.). Failure of growth and development. Poor quality of life.

Answer 513

Sepsis Untreatable cardiopulmonary disease Untreatable cerebrovascular disease

Answer 514

``` Primary non-function of the liver Hepatic artery thrombosis Biliary leaks and stricture Rejection Sepsis (main cause of death) ```

Answer 515

80% NOTE: most deaths occur in first 3 months after transplant.

Answer 516

1. Leukaemia 2. Brain and spinal tumours 3. Lymphomas 4. Neuroblastoma 5. Soft tissue sarcoma 6. Wilms tumour 7. Bone tumours 8. Retinoblastoma

Answer 517

A mutation in the RB gene located on chromosome 13.

Answer 518

Burkitt's lymphoma, Hodgkin's lymphoma, nasopharyngeal carcinoma.

Answer 519

Kaposi's sarcoma

Answer 520

Neuroblastoma

Answer 521

Alpha-fetoprotein

Answer 522

Ewing's sarcoma

Answer 523

Example: Imatinib Gene: BCR-ABL fusion gene Cancers: ALL CML

Answer 524

6 months to 1 year.

Answer 525

Doxorubicin - cardiotoxicity Cisplatin - deafness, renal failure Cyclophosphamide - haemorrhagic cystitis Vincristine - neuropathy

Answer 526

Acute lymphoblastic leukaemia (ALL).

Answer 527

2-5 years old.

Answer 528

FBC - will have low Hb, thrombocytopaenia and evidence of circulating leukaemia blast cells Bone marrow biopsy Clotting screen - 10% of patients with leukaemia have DIC at the time of diagnosis Lumbar puncture CXR - may show mediastinal mass characteristic of T-cell disease

Answer 529

Age - high risk = < 1 year or > 10 years Tumour load (measured by WCC) - high risk > 50x10^9/L Cytogenic/molecular genetic abnormalities in tumour cells - high risk = MLL rearrangement, t(4;11) etc. Speed of response to initial chemotherapy - high risk = persistence of blasts in the marrow Minimal residual disease assessment (submicroscopic levels of leukaemia detected by PCR) - high risk = high

Answer 530

Before treatment, correct anaemia with blood and platelet transfusions. Induction chemotherapy - prednisolone, vincristine, anthracyclines and/or L-asparaginase. Dexrazone - prevents cardiotoxicity from doxorubicin. Rituximab (if anti-CD20+ ALL). Tyrosine kinase inhibitors (imatinib) - for Philadelphia chromosome positive patients. Additional measures: Fluid therapy and allopurinol - reduce accumulation of uric acid and protect renal function. Prophylactic antibiotics. Norethisterone to suppress periods in female patients.

Answer 531

Astrocytoma (40%) - varies from benign to highly malignant (glioblastoma multiforme) Medulloblastoma (20%) - arises in midline of posterior fossa and may seed through the CNS via the CSF (20% have spinal metastases at diagnosis) Ependymoma (8%) - mostly found in posterior fossa Brainstem glioma (6%) - poor prognosis Craniopharyngioma (4%) - arising from squamous remnant of Rathke pouch, and not truly malignant Atypical teratoid/rhabdoid tumour - rare but aggressive

Answer 532

Clinical features: Painless lymphadenopathy (usually neck) - may cause airway obstruction Reasonably long clinical history (months) B symptoms are UNCOMMON Investigations: Lymph node biopsy Radiological assessment of extra nodal sites Bone marrow biopsy Prognosis: 80% cure rate

Answer 533

T cell malignancies (ALL and NHL) present with mediastinal masses which can cause superior vena cava obstruction, leading to dyspnoea, facial swelling/flushing, venous distension in the neck, upper chest and arms. Investigations: Biopsy CT or MRI Examination of bone marrow and CSF Prognosis: Survival rate is 80%

Answer 534

There are three variants. It is associated with EBV (and immunodeficiency-associated BL is associated with HIV).

Answer 535

Neural crest Adrenal medulla Sympathetic nervous system

Answer 536

``` Most common age of presentation: < 5 years old Clinical features: Pallor Weight loss Abdominal mass Hepatomegaly Bone pain Limp Symptoms of metastases ``` Investigations: CT/MRI Urine catecholamine metabolites (VMA and HVA) - high Biopsy Bone marrow sampling MIBG scan - radioactive MIBG is taken up by neuroblastoma cells

Answer 537

Originates from: embryonal renal tissue Most common age of presentation: < 5 years old ``` Clinical features (2): Large abdominal mass Haematuria ``` What proportion of patients have bilateral disease? 5% Prognosis: 80% cure rate

Answer 538

Rhabdomyosarcoma - originates from primitive mesenchymal tissue from a wide variety of sites (so can present in many ways).

Answer 539

Head and neck Presentation: Proptosis Nasal obstruction Blood-stained nasal discharge

Answer 540

Osteosarcoma is more common than Ewing sarcoma. Ewing sarcoma is seen more often in younger children. Key clinical sign = persistent localised bone pain. Investigations: Plain X-ray - destruction of bone with periosteal new bone formation (and in Ewing sarcoma, there is often a substantial soft tissue mass). MRI Bone scan Chest CT (lung mets) Bone marrow sampling (to exclude bone marrow involvement)

Answer 541

ALL bilateral tumours are hereditary, while 20% of unilateral tumours are. The retinoblastoma gene is on chromosome 13 and has autosomal dominant inheritance. Presents < 3 years of age.

Answer 542

Chemotherapy to shrink tumours Laser treatment of retina Consider radiotherapy (Possible enucleation - removal of the eye)

Answer 543

In the sarcococcygeal region (malignant ones tend to be found in the gonads).

Answer 544

Alpha-fetoprotein | Beta-hCG

Answer 545

...abnormal proliferation of histiocytes (type of dendritic antigen-presenting cell).

Answer 546

``` Bone lesions (lytic lesions with well-defined border, often involving skull) Diabetes insipidus (may be associated with proptosis, skull disease and hypothalamic infiltration) ```

Answer 547

Seborrheic rash.

Answer 548

HbF - 74% HbA - 25% HbA2 - 1%

Answer 549

HbA - 97% HbA2 - 2% (Presumably some other types in very small percentages)

Answer 550

HbF is made from 2 alpha chains and 2 gamma chains.

Answer 551

Because they still have a high proportion of HbF in their blood (until 6 months), which has a higher affinity for oxygen than adult haemoglobin.

Answer 552

140-215 g/L - this is so high in order to compensate for the low oxygen concentrations in utero.

Answer 553

2 months of age. NOTE: Preterm babies have a steeper fall in Hb to around 65-90 g/L at 4-8 weeks.

Answer 554

Preterm infants have higher blood volume (per kg) and lower stores of iron and folic acid. This can cause iron/folic acid deficiency around 2-4 months.

Answer 555

10-25x10^9/L NOTE: Platelet counts of neonates are within the normal adult range.

Answer 556

Neonate: < 140g/L 1-12 months: < 100 g/L 1-12 years: < 110 g/L

Answer 557

Reduced red cell production (due to ineffective erythropoiesis, or red cell aplasia) Increased red cell destruction (haemolytic) Blood loss

Answer 558

Inadequate intake Malabsorption Blood loss

Answer 559

8mg/day (this is almost as high as an adult male (9mg/day) because iron is required to increase blood volume, which is needed for growth).

Answer 560

It is a microcytic hypo chromic anaemia. NOTE: Other microcytic anaemias = beta-thalassaemia trait and anaemia of chronic disease.

Answer 561

Dietary advice Explore underlying cause Oral ferrous sulphate 200mg tablets (2/3 per day) - continue for 3 months after deficiency is corrected (Re-check haemoglobin levels after 2-4 weeks of iron supplement, and then 2-4 months if all is good) (Once haemoglobin is normal, monitor every 3 months for 1 year)

Answer 562

Congenital red cell aplasia (Diamond-Blackfan anaemia) Transient erythroblastopenia of childhood Parvovirus B19 infection (only causes aplasia in children with inherited haemolytic anaemias)

Answer 563

Low reticulocyte count despite low Hb Normal bilirubin Negative DAT (Coombs test) Absent red cell precursors on bone marrow examination

Answer 564

Age of presentation: 2-3 months | Management: Oral steroids monthly blood transfusions if non-responsive to steroids

Answer 565

Red cell membrane disorders (e.g. hereditary spherocytosis) Red cell enzyme disorders (e.g. G6PD deficiency) Haemoglobinopathies (e.g. beta-thalassaemia major, sickle cell disease)

Answer 566

Anaemia (obviously) Hepatosplenomegaly (sites of extravascular haemolysis) Increased unconjugated bilirubin (therefore jaundice, and increased urinary urobilinogen)

Answer 567

Pattern of inheritance: Autosomal dominant % of patients with no family history: 20% 2 examples of proteins that can be misfolded, leading to HS: Spectrin and ankyrin (red cell membrane proteins) 2 specific tests for HS: Dye binding assay and osmotic fragility test

Answer 568

Neonates: Consider red blood cell transfusion Folic acid supplementation Consider treatment for jaundice Infants, children and adults: Consider red blood cell transfusion Folic acid supplementation Consider splenectomy (with pre-operative vaccination for encapsulated bacteria) Cholecystectomy if it presents with gallstones (due to high bilirubin) Pneumococcal prophylaxis with penicillin Check for parvovirus B19

Answer 569

Inheritance pattern: X-linked recessive G6PD is the rate-limiting enzyme in the pentose phosphate pathway. What is G6PD essential for? Preventing oxidative damage to red blood cells. How can we test for it? Measure G6PD activity in red blood cells.

Answer 570

Antimalarials: Primaquine Quinine Chloroquine Antibiotics: Sulphonamides (including co-trimoxazole) Quinolones (ciprofloxacin, nalidixic acid) Nitrofurantoin Analgesics: Aspirin (high doses) Chemicals: Nephthalene Divicine (fava beans)

Answer 571

Because reticulocyte count will increase in order to balance out haemolysis.

Answer 572

Supportive care Folic acid Consider blood transfusion and renal support

Answer 573

Inheritance pattern: autosomal recessive. Point mutation that causes formation of HbS: change from glutamine to valine on codon 6 of the beta global gene. Types of sickle cell disease: Sickle cell anaemia (homozygous HbS) HbSC disease - children inherit HbS from one parents and HbC from the other (HbC is caused by a different point mutation in beta globin) Sickle beta-thalassaemia - children inherit HbS from one parent and beta-thalassaemia from the other Sickle cell trait - children inherit HbS from one parents and normal beta-globin from the other (asymptomatic) ``` 4 factors that can exacerbate the sickling of red cells: Hypoxia Dehydration Cold Infection ```

Answer 574

Anaemia Infection (hyposplenism due to microinfarctions in the spleen) Painful (vaso-occlusive crises) Acute anaemia - haemolytic crises, aplastic crises, sequestration crises Priapism - treat promptly with exchange transfusion to avoid fibrosis of corpora cavernosa Splenomegaly

Answer 575

Prophylaxis: Immunisation against encapsulated organisms Daily oral penicillin Daily oral folic acid Avoid exposure to triggers for vast-occlusive crises ``` Treatment of acute crises: Analgesia Hydration Antibiotics Oxygen Exchange transfusion for acute chest syndrome, priapism and stroke ``` Treatment of chronic problems: Hydroxycarbamide (stimulates HbF production) if patients present frequently - have to monitor for white blood cell suppression Bone marrow transplant in severe cases

Answer 576

They may develop proliferative retinopathy in adolescence. NOTE: They are also prone to osteonecrosis of the hips and shoulders.

Answer 577

As they may require additional measures to prevent hypoxia.

Answer 578

Beta-thalassaemia major | Beta-thalassaemia intermedia

Answer 579

Severe anaemia (transfusion-dependent) Jaundice Faltering growth/growth failure Extramedullary haemopoiesis - without blood transfusions, patients develop hepatosplenomegaly and bone marrow expansion, leading to classic faces with maxillary overgrowth and skull bossing

Answer 580

Maxillary overgrowth | Skull bossing

Answer 581

Regular blood transfusions to keep Hb > 100g/L Iron chelation (transfusions lead to overload) with SC desferrioxamine or oral deferasirox Bone marrow transplantation (curative) - reserved for children with a HLA-identical sibling

Answer 582

Ferritin level - beta-thalassaemia trait does not have a low ferritin, while IDA does.

Answer 583

Cause: deletion of all four alpha-globin genes so patient cannot produce HbA (always fatal) Diagnostic test: High-performance liquid chromatography

Answer 584

A form of alpha thalassaemia where three of the alpha globin genes are deleted - presents with mild-moderate anaemia.

Answer 585

A(n) (usually) asymptomatic form of alpha thalassaemia where there is deletion of one or two alpha globin genes. Red cells may be microcytic or hypochromic.

Answer 586

Congenital infection with parvovirus B19 | Congenital red cell aplasia (Diamond-Blackfan anaemia)

Answer 587

Inadequate EPO production Reduced red cell lifespan Frequent blood sampling whilst in hospital Iron or folic acid deficiency

Answer 588

Definition: Rare condition characterised by reduction or absence of all three main lineages in the bone marrow leading to peripheral blood pancytopenia. ``` Acquired causes: Viruses (e.g. hepatitis) Drugs (e.g. sulphonamides, chemotherapy) Toxins (e.g. benzene) Idiopathic ``` Inherited causes: Fanconi anaemia Shwachman-Diamond syndrome Management: Bone marrow transplantation

Answer 589

Autosomal recessive. ``` Congenital abnormalities: Short stature Abnormal radii and thumbs Renal malformations Microphthalmia Pigmented skin lesions ``` Features of bone marrow doesn't usually present until 5-6 years old. Diagnosis is by demonstrating increased chromosomal breakage of peripheral blood lymphocytes.

Answer 590

Pattern of inheritance: autosomal recessive. Characterised by bone marrow failure with signs of pancreatic exocrine failure and skeletal abnormalities. Caused by mutations of the SBDS gene.

Answer 591

Pattern of inheritance: X-linked recessive Haemophilia A: Factor 8 deficiency (more common) Haemophilia B: Factor 9 deficiency Hallmark: Recurrent spontaneous bleeding into joints and muscles Management: Recombinant factor 8 or 9 concentrate Desmopressin in mild haemophilia A to stimulate endogenous release of FVIII and vWF Anti-fibrinolytics for acute bleeding (amniocaprioic acid, tranexamic acid) Analgesia Physiotherapy

Answer 592

Development of inhibitors (antibodies to FVIII or FIX) occurs in 5-20% of patients Transfusion-transmitted infections Vascular access may be difficult

Answer 593

Facilitates platelet adhesion to damaged endothelium | Carrier protein for factor 8 (so patients with vW disease also have FVIII deficiency)

Answer 594

(Usual) pattern of inheritance: autosomal dominant Clinical features: Bruising Excessive, prolonged bleeding after surgery Mucosal bleeding such as epistaxis and menorrhagia NO spontaneous soft tissue bleeding Management: Type 1 vWD - desmopressin (DDAVP) More severe types - plasma-derived factor 8 concentrate

Answer 595

It can cause hyponatraemia and may precipitate seizures.

Answer 596

Factors 2, 7, 9 and 10.

Answer 597

Definition: Platelet count < 150x10^9/L Most common cause in childhood: Immune thrombocytopenia purpura (ITP) ``` Clinical features: Bruising Petechiae Purpura Mucosal bleeding ```

Answer 598

Cause: destruction of circulating platelets by anti platelet IgG autoantibodies. ``` Clinical features: Age 2-10 years Post-viral Bruising, petechiae or purpura Mucosal bleeding (Intracranial bleeding is a rare but serious complication) ``` In younger children, consider Wiskott-Aldrich syndrome or Bernard-Soulier syndrome. Management: In 80% it is self-limiting within 6-8 weeks Treat major bleeding with IVIG, corticosteroids and platelet transfusion (Consider antifibrinolytics)

Answer 599

Mycophenolate mofetil Rituximab Eltrombopag (thrombopoietin agonist) 2nd line: Splenectomy

Answer 600

Steroids can mask the diagnosis of ALL.

Answer 601

Characterised by coagulation pathway activation leading to diffuse fibrin deposition in the microvasculature and consumption of coagulation factors and platelets. Most common causes: Severe sepsis/shock to do circulatory collapse Extensive tissue damage (trauma or burns) Clinical features: Bruising Purpura (can present with purpura fulminans) Haemorrhage

Answer 602

Thrombophilias: Protein C deficiency - autosomal dominant Protein S deficiency - autosomal dominant Antithrombin deficiency Factor V Leiden Prothrombin gene G20210A mutation ``` Acquired prothrombotic disorders: Catheter-related thrombosis DIC Hypernatraemia Polycythaemia Malignancy SLE and persistent anti phospholipid antibody syndrome ```

Answer 603

Any child with unanticipated or extensive venous thrombosis, ischaemic skin lesions or neonatal purpura fulminans. Any child with a positive family history of neonatal purpura fulminans.

Answer 604

An uncommon condition mainly seen in black children, which causes severe progressive and often unilateral bowing of the legs (genu varum).

Answer 605

Knock-knees = genu valgum Normal intermalleolar distance = < 8cm

Answer 606

Because of flatness of the medial longitudinal arch and the presence of a fat pad.

Answer 607

Tendo-achilles contracture Tarsal coalition Inflammatory arthropathy

Answer 608

Metatarsus varus - adduction deformity of a highly mobile forefoot Medial tibial torsion - at the lower leg, where the tibia is laterally rotated less than normal in relation to the femur Persistent anteversion of the femoral neck - at the hip, when the femoral neck is twisted forward more than usual

Answer 609

Mild cerebral palsy Tightness of the achilles tendon Inflammatory arthritis in the foot Duchenne muscular dystrophy

Answer 610

Can occur due to intrauterine compression (positional talipes), or may be secondary to oligohydramnios in pregnancy, a feature of malformation syndrome or of neuromuscular disorders such as spina bifida. Positioning: Entire foot is inverted and supinated Forefoot is adducted, heel is rotated inwards Foot is in plantar flexion Associated with: Developmental dysplasia of the hip (DDH) Management: Plaster casting and bracing (PONSETI method) Physiotherapy Surgery if necessary (Achilles tenotomy)

Answer 611

Foot positioning: foot is stiff and rocker-bottom in shape Management: Surgery

Answer 612

Foot positioning: foot is dorsiflexed and everted Cause: intrauterine moulding Association: developmental dysplasia of the hip (DDH) Management: Self-corrects

Answer 613

Lack of segmentation between one or more bones of the foot - coalitions become symptomatic as they begin to ossify, the foot becomes more rigid and symptoms worsen in preadolescence.

Answer 614

High arched foot. In older children it is often associated with neuromuscular disorders (e.g. Friedreich ataxia, type I hereditary motor sensory neuropathy).

Answer 615

How does it usually present (if not picked up by neonatal screening)? Limp or abnormal gait. What is the best method of detecting DDH? Ultrasound. ``` Management: Seek orthopaedic specialist opinion Splint or Pavlik harness to keep the hip flexed and abducted Monitor progress by ultrasound or x-ray (Surgery if conservative measures fail) ```

Answer 616

Definition: Lateral curvature in the frontal plane of the spine. Causes: Idiopathic Congenital (from a structural defect e.g. hemivertebra) Secondary to neuromuscular imbalance (e.g. cerebral palsy), disorders of bone (e.g. neurofibromatosis), connective tissue disorders (e.g. Marfan syndrome) or leg length discrepancy (e.g. due to arthritis of one knee in JIA)

Answer 617

Torticollis is known as a wry neck. | The most common cause is a sternocleidomastoid tumour (congenital muscular torticollis).

Answer 618

...some chromosomal abnormalities (e.g. Down syndrome) or inherited collagen disorders (e.g. Marfan's or Ehlers-Danlos).

Answer 619

Most common in adolescent females. Presentation: Extreme and incapacitating pain often triggered by minor trauma without a major precipitant Hyperaesthesia Allodynia Affected area is cool to touch, swollen or mottled and held in flexion with minimal active movement

Answer 620

Definition: Infection of the metaphysics of the long bones. Most common sites: Distal femur Proximal tibia Most common cause: Haematogenous spread of a pathogen, most commonly S. aureus. X-Ray: Initially normal, after 7-10 days it will show subperiosteal new bone formation and localised bone rarefaction.

Answer 621

Blood cultures BEFORE starting antibiotics High-dose IV empirical antibiotics (2-4 weeks) - switch to oral when acute-phase reactants have returned to normal Immobilise affected limbs Surgical debridement if there is dead bone or a biofilm

Answer 622

Staging (Cierny-Mader classification) Surgical debridement IV antibiotics Functional rehabilitation

Answer 623

Staphylococcus | Salmonella

Answer 624

Distal femur | Proximal tibia

Answer 625

Osteogenic sarcoma | Ewing sarcoma

Answer 626

A benign tumours affecting adolescents. X-ray will show sharply demarcated radiolucent nidus of osteoid tissue surrounded by sclerotic bone.

Answer 627

Hip pain is often referred to the knee.

Answer 628

Definition: Osteochondritis of the patellar tendon insertion at the knee. ``` Clinical features: Knee pain after exercise Localised tenderness Swelling over tibial tuberosity Hamstring tightness ``` Management: Advise about pain relief - analgesia, ice packs, knee pads Reassure that it resolves over time Advise stopping all sporting activity

Answer 629

What is it? A condition characterised by softening of the articular cartilage of the patella. Who does it most commonly affect? Adolescent females. Associations (2): Hypermobility Flat feet

Answer 630

Persistent knee pain in active adolescents Localised tenderness over femoral condyles Knee locking/giving way

Answer 631

...hypermobility.

Answer 632

Young age High fever (infection) Night waking or persistent pain (osteoid osteomalacia or tumours) Painful scoliosis (infection or malignancy) Focal neurological signs e.g. nerve root irritation, low of bowel/bladder control (cord compression) Weight loss/malaise (malignancy)

Answer 633

``` Mechanical (muscle spasm etc.) Malignancies (spine is most common site for osteoid sarcoma) Vertebral osteomyelitis or discitis Spinal cord or nerve root entrapment Scheuermann disease Spondylosis/Spondylolisthesis Complex regional pain syndrome ```

Answer 634

Osteochondrosis of the vertebral body, presenting with fixed thoracic kyphosis.

Answer 635

Spondylosis = stress fracture of the pars interarticularis of the vertebra. Spondylolisthesis = forward slip of the vertebral body, and potential cord or nerve root compression (it can be caused by bilateral spondylosis).

Answer 636

Transient synovitis

Answer 637

Sudden-onset pain in the hip or a limp in a 2-12 year old following viral infection - it can be difficult to differentiate from early septic arthritis.

Answer 638

Because it can be difficult to differentiate from early septic arthritis.

Answer 639

Avascular necrosis of the capital femoral epiphysis of the femoral head due to interruption of the blood supply. This is followed by revascularisation and reossification over 18-36 months.

Answer 640

< 5 years: Mobilisation and monitoring Non-surgical containment using splints 5-7 years: Mobilisation and monitoring Surgical containment 7-12 years: Surgical containment Salvage procedure (removal the acetabulum) 12+ years: Salvage procedure Replacement arthroplasty

Answer 641

Avascular necrosis.

Answer 642

Reactive arthritis.

Answer 643

Duration of joint swelling is < 6 weeks (transient joint swelling). Most commonly affects the ankles and knees.

Answer 644

``` Enteric bacteria (salmonella, shigella etc.) - younger children STIs (chlamydia, gonococcus) - adolescents Rare - mycoplasma and borrelia burgdorferi ```

Answer 645

Age group: < 2 years old. Joint affected: Usually just ONE. Most common causative organism after neonatal period: S. aureus.

Answer 646

Joint aspiration (under ultrasound guidance).

Answer 647

Antibiotics (IV for 2 weeks, followed by 4 weeks oral): Suspected Gram-positive = Vancomycin Suspected Gram-negative = 3rd generation cephalosporin (e.g. ceftriaxone) Surgical washing out or drainage of the joint may be required. Aspirate joint to dryness.

Answer 648

Definition: Persistent joint swelling (> 6 weeks duration) presenting before 16 years of age in the absence of infection or any other defined cause. There are at least 7 subtypes including psoriatic arthritis and undifferentiated arthritis. Class-action is based on number of joints affected in the first 6 months: Polyarthritis = > 4 joints Oligoarthritis = < (or equal to) 4 joints Systemic = with fever and rash NOTE: Subtyping can be further classified by the presence of rheumatoid factor and HLA-B27 tissue type.

Answer 649

``` Bone expansion Chronic anterior uveitis Flexion contractures of the joints Growth failure Constitutional problems Osteoporosis Amyloidosis ```

Answer 650

Refer to specialist paediatric rheumatology MDT Physiotherapy/Occupational therapy NSAIDs Corticosteroids DAMRDs (oral or SC methotrexate is 1st line)

Answer 651

Insidious onset malaise, weakness and facial rash Erythema over bridge of the nose Heliotropic discolouration of the eyelids Skin over metacarpal and proximal interphalangeal joints may be hypertrophic and pink Nailfold capillaries may be dilated and tortuous Arthritis (30%)

Answer 652

Pattern of inheritance: Autosomal dominant (50% of cases are new mutations). ``` Presentation: Short stature with marked shortening of the limbs Large head with frontal bossing Depression of nasal bridge Short, broad hands Lumbar lordosis ```

Answer 653

A condition which results in still birth, where a child has a large head and short limbs.

Answer 654

An autosomal dominant condition where there is absence of part or all of the clavicles, delay in closure of the anterior fontanelle and short stature.

Answer 655

A variety of non-progressive conditions characterised by multiple joint contractures (stiffness) and widespread muscle weakness from birth. It is associated with oligohydramnios and chromosomal abnormalities.

Answer 656

A group of disorders of collagen metabolism causing bone fragility - presents as bowing and frequent fractures. Type 1: Autosomal dominant Blue sclerae Possible hearing loss Type 2: Severe, lethal form Fractures before birth Many infants are stillborn

Answer 657

A condition where bones are dense but brittle - it presents with faltering growth, recurrent infections, hypocalcaemia, anaemia and thrombocytopenia. Management: Bone marrow transplant is curative.

Answer 658

Pattern of inheritance: Autosomal dominant. Complications: Degeneration of media of vessel walls, leading to incompetent aortic root with valvular incompetence and mitral valve prolapse and regurgitation - aneurysms may dissect or rupture.

Answer 659

NIPE must be performed within 72 hours of birth. Second examination should be performed between 6 and 8 weeks, usually by a GP.

Answer 660

``` Introduction Head Skin Face Upper limbs Torso Lower limbs Back and spine Reflexes Complete ```

Answer 661

Cranial moulding - common after birth and resolves in days. Caput succedaneum - diffuse subcutaneous fluid collection, resolves in days. Cephalhaematoma - subperiosteal haemorrhage which may increase in size after birth. Does not cross the suture lines, is more common after instrumental delivery and can cause jaundice. Subgaleal haemorrhages - occur between aponeurosis of the scalp and periosteum of the skull. Can cause like threatening blood loss. Craniosynostosis - condition in which one or more of the fibrous sutures in the infant's skull permaturely fuses, causing distorted growth pattern and possibly raised ICP/damage to intracranial structures. Tense bulging fontanelle - raised ICP. Sunken fontanelle - dehydration.

Answer 662

``` Colour abnormalities (pallor, cyanosis, erythema) Bruising/lacerations Salmon patch Vernix Mongolian blue spot Nevus simplex Nevus flammeus (port wine stain) Milia Erythema toxicum Neonatal jaundice ```

Answer 663

``` Congenital cataracts (e.g. rubella) Retinoblastoma ```

Answer 664

120-150bpm.

Answer 665

Barlow's and Ortolani's tests.

Answer 666

``` Palmar grasp Suckling reflex Rooting reflex Stepping reflex Moro reflex ```

Answer 667

Characteristically pulsatile over the temporal or frontal area Often bilateral but can be unilateral May be preceded by an aura

Answer 668

Familial hemiplegic migraine Sporadic hemiplegic migraine Basilar-type migraine (vomiting with nystagmus and/or cerebellar signs) Periodic syndromes - cyclical vomiting, abdominal migraine, benign paroxysmal vertigo of childhood

Answer 669

Consider using a headache diary for minimum 8 weeks to identify triggers Acute management: Simple analgesia For patients aged 12-17 offer combination therapy with nasal sumatriptan and an NSAID/paracetamol (oral triptans not licensed for under 18s) Consider aspirin monotherapy (but not in children < 16 years old because of risk of Reye's syndrome) Consider adding a non-oral NSAID (e.g. diclofenac suppositories) Non-oral preparations of prochlorperazine and metoclopramide are licensed in children > 12 years old

Answer 670

Headaches worse when lying down Morning vomiting Headaches may cause night-time waking Change in mood/personality

Answer 671

``` Rescue treatments: Analgesia Antiemetics (prochlorperazine) Triptans (nasal preparation available for children) Physical treatments (cold compress etc.) ``` ``` Prophylactic treatments: Sodium channel blockers (topiramate, valproate) Beta-blockers (propranolol) Tricyclics (pizotifen) Acupuncture ```

Answer 672

Paroxysmal abnormality of motor, sensory, autonomic and/or cognitive function, due to transient brain dysfunction.

Answer 673

Epileptic seizures are due to excessive and hypersynchronous electrical activity.

Answer 674

Convulsions are seizures with motor components.

Answer 675

``` Stroke TBI Intracranial infarction Hypoglycaemia, hypocsalcaemia, hypomagnesaemia, hyponatraemia/hypernatraemia Poisons/toxins ```

Answer 676

Definition - an epileptic seizure accompanied by a fever in the absence of an intracranial infection. They tend to occur early in viral infection. Age group affected: 6 months to 6 years. They are usually brief generalised tonic-clonic seizures. ``` Predisposing factors: Younger children Shorter duration of illness before seizure Lower temperature at time of seizures Positive family history ```

Answer 677

Seizure > 5 mins: Rectal diazepam OR Buccal midazolam Consider measuring blood glucose if child cannot be roused or is convulsing.

Answer 678

``` Breath-holding attacks Reflex anoxic seizures - hypoxia results from cardiac systole from vagal inhibition, leading to generalised tonic-clonic seizure Syncope Migraine Benign paroxysmal vertigo ``` NOTE: Other causes include cardiac arrhythmias, non-epileptic attack disorder, pseudo seizures etc.

Answer 679

Generalised = discharge from both hemispheres (absence, myoclonic, tonic, tonic-clonic, atonic). Focal = discharge from one or part of one hemisphere - manifestation depends on where it originates (frontal, temporal, occipital, parietal).

Answer 680

Occurring in frontal seizures, Jacksonian march is where the clinic movements of a seizure travel proximally.

Answer 681

Motor | Pre-motor

Answer 682

Lip-smacking Plucking at one's clothing Walking in a non-purposeful manner NOTE: These are seen after the seizure spreads to the pre-motor cortex.

Answer 683

Temporal lobe seizures.

Answer 684

Occipital seizures.

Answer 685

``` Contralateral dysaesthesias (altered sensation) Distorted body image ```

Answer 686

To rule out neurocutaneous syndromes.

Answer 687

``` Examine skin (neurocutaneous syndromes) ECG (ALWAYS) EEG - can help to categorise the type/severity of epilepsy Brain imaging (MRI/CT/PET/SPECT) ```

Answer 688

Benign rolandic epilepsy - this usually presents in children 6-8 years of age and does not require treatment.

Answer 689

After 2 years seizure-free.

Answer 690

Tonic-clonic - Valproate. Absence - Ethosuxamide or valproate. Myoclonic - Valproate. Focal - Carbamazepine or lamotrigine.

Answer 691

Weight gain Hair loss (Rare) idiosyncratic liver failure

Answer 692

``` Rash Neutropenia Hyponatraemia Ataxia Liver enzyme induction (can interfere with other medication) ```

Answer 693

Nausea and vomiting.

Answer 694

Motor cortex Basal ganglia - store patterns of movement so that you can do things unconsciously Cerebellum - posture, balance, coordination

Answer 695

Weakness Pattern of adduction at the shoulder, flexion at the elbow and pronation of the forearm Adduction and internal rotation of the hip, flexion at the hip and knee and plantar flexion at the ankle Brisk hyper-reflexia and extensor plantar reflexes Fine finger movement is lost

Answer 696

``` Difficulty initiating movement Fluctuating tone Dystonia or dyskinesia Chorea Athetosis ```

Answer 697

``` DANISH: Dysdiadochokinesia Ataxia Nystagmus Intention tremor Slurred speech Hypotonia/Heel-shin test ```

Answer 698

Corticospinal (pyramidal) tract disorders: Cerebral dysgenesis Arterial ischaemic stroke Cerebral tumour Basal ganglia disorders: Post-strep chorea Wilson disease Huntington disease ``` Cerebellar disorders: Medication Post-viral (varicella) Medulloblastoma Ataxic cerebral palsy ```

Answer 699

Spinal muscular atrophy | Poliomyelitis

Answer 700

Hereditary motor sensory neuropathies Acute post-infectious polyneuropathy (Guillain-Barré) Bell's palsy

Answer 701

Myasthenia gravis

Answer 702

Muscular dystrophies (e.g. Duchenne) Inflammatory myopathies (polymyositis/dermatomyositis) Myotonic disorders (dystrophia myotonica) Metabolic myopathies Congenital myopathies

Answer 703

The need to turn prone to rise to a standing position from a supine position - this is normal until 3 years but may indicate myopathy thereafter.

Answer 704

Hereditary motor sensory neuropathy.

Answer 705

Plasma creatine kinase - elevated in Duchenne and Becker muscular dystrophy, congenital muscular dystrophy and inflammatory myopathies. Muscle biopsy - for definitive diagnosis. DNA testing Ultrasound/MRI of muscles

Answer 706

Nerve conduction studies DNA testing Nerve biopsy EMG

Answer 707

Pattern of inheritance: autosomal recessive. ``` Caused by mutations in which gene? SMN1 gene (survival motor neurone). ``` Types: 1 - Werdnig-Hoffman Disease 2 and 3 - milder forms of disease

Answer 708

Age at presentation: 0-3 months of age (may be seen during pregnancy as reduced foetal movement). Features: Arthrogyroposis (positional deformities of the limbs with contractors of at least 2 joints) Alert expression Tongue fasciculation Symmetrical flaccid paralysis Absent deep tendon reflexes Intercostal recession Weakness of bulbar muscles causing weak cry and poor suck with pooling of secretions Never sit unaided Death from respiratory failure within 12 months

Answer 709

Caused by mutations in which genes? Myelin genes. Most common mutation: CMT1A accounts for 70-80% - autosomal dominant inheritance in 2/3 of cases (de novo in 1/3). Features: Symmetrical, slowly progressive distal muscular wasting Loss of ankle reflexes Pes cavus Lower limbs affected more than upper limbs May present with tripping due to bilateral foot drop Nerve biopsy: Onion bulb formation.

Answer 710

Features: 2-3 weeks post URTI or campylobacter gastroenteritis Ascending, progressive, symmetrical weakness over a few days to 2 weeks Loss of tendon reflexes with autonomic involvement Involvement of bulbar muscles leads to difficulty chewing and swelling leading to risk of aspiration How common is dysautonomia? Seen in 70% of cases. Prognosis: 90% make full recovery. Investigations: MRI spinal cord Lumbar puncture - high CSF protein Nerve conduction studies

Answer 711

An isolated lower motor neurone paresis of the VIIth cranial nerve.

Answer 712

Associations: HSV Lyme disease Coarctation of the aorta (therefore rule out hypertension) Renal failure (therefore rule out hhypertension) ``` Complications: Conjunctival infection (due to incomplete eye closure on blinking) ```

Answer 713

Cause: Binding of antibody to nicotinic acetylcholine receptors on the post-synaptic membrane of the neuromuscular junction. Age at presentation: Over 10 years old. ``` Clinical features (worsen throughout day due to fatiguability): Ophthalmoplegia Ptosis Loss of facial expression Difficulty chewing Generalised weakness ``` Investigations: Tension test - improvement of symptoms with IV endrophonium bromide Antibodies - anti-acetylcholine receptor antibodies or anti-MuSK antibodies Management: Cholinesterase inhibitors - pyridostigmine or neostigmine Immunosuppressants/immune modulation (prednisolone) Thymectomy if thymoma is present Plasma exchange for crises

Answer 714

Pattern of inheritance: X-linked recessive. Cause: Deletion of the gene for dystrophin - a lack of dystrophin leads to myofibril necrosis. Investigations: Plasma creatine kinase (high). Prognosis: Often not walking by 10-14 years Life expectancy - 20-30 years

Answer 715

``` Presentation: Waddling gait Language delay Mounting stairs one step at a time Average age of diagnosis - 5 years old Gower's sign positive Pseudohypertrophy of the calves ``` Management: Physiotherapy Tendoachilles lengthening and scoliosis may be required Overnight CPAP may help with nocturnal hypoxia (due to intercostal muscle weakness) Glucocorticoids may help delay wheelchair dependence Cardioprotective drugs if left ventricular ejection fraction drops

Answer 716

Is it milder or more progressive than Duchenne MD? Milder. Average age of onset: 11 years old. Life expectancy: Middle-to-old age.

Answer 717

Heliotrope rash.

Answer 718

``` Presentation: Heliotrope rash Fever Misery Symmetrical muscle weakness ``` Investigations: Creatine kinase - high Inflammatory markers - sometimes high Management: Physiotherapy to prevent contractures Steroids Immunosuppressants (methotrexate, ciclosporin)

Answer 719

Delayed relaxation after sustained muscle contraction.

Answer 720

Pattern of inheritance: autosomal dominant. Cause: nucleotide triplet repeat expansion - CTG ni the DMPK gene. Cause of death: cardiac conduction defects.

Answer 721

Genetic: Down syndrome Prader-Willi syndrome Metabolic: Hypothyroidism Hypocalcaemia

Answer 722

Pattern of inheritance: autosomal recessive. Cause: triplet repeat in FXN gene leads to a lack in frataxinp protein. ``` Presentation: Worsening dysarthria and ataxia Distal wasting in lower limbs Absent reflexes Pes cavus Optic atrophy Cerebellar signs ``` Complications: Kyphoscoliosis Diabetes mellitus Cardiomyopathy

Answer 723

Pattern of inheritance: autosomal recessive. ``` Presentation: Oculomotor problems Ataxia Wheelchair bound in early adolescence Telangiectasia în the conjunctiva ``` ``` Complications: Increased susceptibility to infections and IgA and IgE deficiencies Development of malignancies Development of pulmonary disease Sensitivity to ionising radiation ``` Prognosis: Most die of malignancy or chronic lung disease in their 20s.

Answer 724

Usually follows head trauma Lucid interval followed by deterioration of consciousness Seizures and focal neurological signs can be seen

Answer 725

Caused by tearing of bridging veins as they cross the subdural space Characteristic lesion of non-accidental injury caused by shaking or indirect trauma May show retinal haemorrhaging

Answer 726

Less common in children Severe headache with rapid onset Vomiting, confusion, seizures etc. CT may show blood in CSF

Answer 727

Contralateral hemiparesis With or without hemianopia Speech disturbance NOTE: Posterior circulatory compromise leads to visual and cerebellar signs.

Answer 728

Failure of normal fusion of the neural plate to form the neural tube during the first 28 days following conception.

Answer 729

Extrusion of the brain and meninges through a midline skull defect - it is corrected surgically.

Answer 730

Definition: Failure of fusion of the vertebral arch. Presentation: Overlying skin lesions such as tuft of hair, lipoma or birth mark - may show bladder and lower limb dysfunction due to tethering of cord (diastematomyelia). Management: Neurosurgical relief of tethering.

Answer 731

They are forms of spina bifida (occulta is least serious and myelomeningocele is most). In meningocele, the meninges pass through the opening of the neural tube, forming a sort of cyst. In myelomeningocele, the spinal cord is enclosed in the cyst.

Answer 732

Non-communicating - obstruction in the ventricular system or aqueduct. Communicating - failure to absorb CSF at the arachnoid villi.

Answer 733

Congenital malformation (aqueduct stenosis, chiari malformation etc.) Posterior fossa neoplasm or vascular malformation Intraventricular haemorrhage in preterm infant

Answer 734

Subarachnoid haemorrhage | Meningitis

Answer 735

Advanced hydrocephalus.

Answer 736

Ventriculoperitoneal shunt.

Answer 737

Pattern of inheritance: autosomal dominant. Cause: mutation in neurofibromin-1 (NF1) gene. ``` Diagnostic criteria - two or more of: 6+ cafe au last spots > 5mm size before puberty or > 15mm after puberty 1+ neurofibroma Axillary freckling Optic glioma 1 Lisch nodule 1st degree relative with NF1 ```

Answer 738

Pattern of inheritance: autosomal dominant. Cause: mutations in the TSC1 and TSC2 genes. Cutaneous features: Depigmented ash leaf shaped patches or melanotic naevi which fluoresce under UV light (Wood's light) Shagreen patches - roughened patches of skin (usually) over lumbar spine Angiofibromata (adenoma sebaceum) - in a butterfly distribution ``` Neurological features: Infantile spasms Developmental delay Epilepsy Intellectual disability (often with autism) ```

Answer 739

Characterised by a haemangiomatous facial lesion (port wine stain). Associated with a similar lesion intracranially (ipsilateral leptomeningeal angioma) Presentation (in most severe form): Epilepsy Intellectual disability Contralateral hemiplegia

Answer 740

The ophthalmic division of the trigeminal nerve.

Answer 741

``` Lysosomal storage disorders Peroxisomal enzyme defects (adrenoleukodystrophies) Wilson disease Tay-Sachs disease Gaucher disease Niemann-Pick disease ```

Answer 742

Fatty acids in cells.

Answer 743

Neonatal - part of the Zellweger spectrum of disorders | X-linked - most common, results in damage to adrenal glands, brain cells and myelin

Answer 744

Hypovolaemic - sepsis, dehydration, DKA, blood loss Maldistribution of fluid - sepsis, anaphylaxis Cardiogenic - arrhythmias, heart failure Neurogenic - spinal cord injury

Answer 745

Acute abdomen - asppendicitis, peritonitis | Intestinal obstruction - intussusception, malrotation, bowel atresia/stenosis

Answer 746

15 : 2 NOTE: Compressions should be administered at a rate of 100-120/min.

Answer 747

Internal diameter (mm) = (age/4) + 4 Length of oral tube (cm) = (age/2) + 12 Length of nasal tube (cm) = (age/2) + 15

Answer 748

Ventricular fibrillation | Pulseless ventricular tachycardia

Answer 749

Definition: Failure of the lungs to maintain adequate gas exchange. ``` Causes (note that these causes can occur in combination with one another): Alveolar hypoventilation Diffusion impairment Intrapulmonary shunting Ventilation-perfusion mismatch ``` What are the consequences of RF? RF leads to hypoxaemia, which leads to tissue hypoxia or it can lead to hypercapnia which causes carbon dioxide narcosis.

Answer 750

Definition: The condition that arises when the circulation is inadequate to meet the metabolic demands of the tissues. ``` Early (compensated) clinical features: Tachypnoea Tachycardia Reduced skin turgor Sunken eyes/fontanelle Delayed capillary refill (< 2 secs) Mottled, pale, cold skin Core-peripheral temperature gap > 4 degrees Decreased urinary output ``` ``` Late (decompensated) clinical features: Acidotic (Kussmaul) breathing Bradycardia Confusion Blue peripheries Absent urine output Hypotension ``` Management: Fluid resuscitation PICU admission if no improvement Consider ventilatory support, inotropic support etc.

Answer 751

First 10kg = 100ml/kg Second 10kg = 50ml/kg Subsequent kg = 20ml/kg

Answer 752

Coagulase-negative staphylococcus (CoNS) Staphylococcus aureus Non-pyogenic streptococci Streptococcus pneumoniae

Answer 753

Group B streptococcus | E. coli

Answer 754

Transfer immediately to acute hospital setting If in community and meningococcal disease is suspected, give IM benzylpenicillin Paediatric sepsis 6: 1. Give high flow oxygen 2. Obtain IV/IO access and take bloods (VBG) 3. Give IV/IO antibiotics 4. Consider fluid resuscitation 5. Involve senior clinicians early 6. Consider inotropic support early

Answer 755

< 1 month old 1-3 months old and appear unwell 1-3 months old with WCC < 5 or >15x10^9/L

Answer 756

Lactate of more than 2mmol/L or evidence of an AKI indicates high risk in a child with sepsis.

Answer 757

IV benzylpenicillin and gentamicin

Answer 758

Definition: a severe, life-threatening, generalised or systemic hypersensitivity reaction. Most common age group: < 5 years old. ``` Management: ABCDE approach Give IM adrenaline 1 : 1000 (as per age related guidelines) - give in thigh and repeat at 5 minute intervals until adequate response Give high flow oxygen Give IV fluids ```

Answer 759

Continuous seizures lasting > 30 mins, or intermittent clinical or ECG seizures lasting > 30 mins without full recovery of consciousness between seizures.

Answer 760

Definition: events in an infants where there is a sudden, brief and often frightening change in condition where the patient was previously well and appears well immediately afterwards. ``` Features: Cyanosis/pallor Breathing irregularities Change in tone Altered consciousness ``` ``` Investigations/Management: Observation Monitoring of vital signs ECG Perinasal swab for pertussis Monitor pulse oximetry ```

Answer 761

Peak age range: 2-4 months. Preventative advice: Infants should sleep on their back Avoid overheating Place infants in feet to foot (of bed) position Don't smoke around infant Keep baby in parents' bedroom for first 6 months of life Avoid bringing baby into parents' bed Avoid sleeping with baby on the sofa, settee or armchair Breastfeed if possible

Answer 762

Gross motor Vision and Fine motor Hearing, speech and language Social, emotional and behavioural

Answer 763

Because good vision is required to demonstrate fine motor skills.

Answer 764

2 standard deviations.

Answer 765

Because maturation of the CNS and myelination follows a cephalocaudal pattern. Myelination in the brain begins in utero and most occurs in the first 2 years if life, giving rise to rapid motor development.

Answer 766

We calculate their age from their EXPECTED delivery date. NOTE: This correction is not required after 2 years of age.

Answer 767

6-8 weeks.

Answer 768

6-8 months (at 6 months they sit with a round back, at 8 months with a straight back).

Answer 769

8-9 months.

Answer 770

10 months.

Answer 771

12 months.

Answer 772

15 months.

Answer 773

4-6 months.

Answer 774

10 months.

Answer 775

16-18 months.

Answer 776

3 blocks - 18 months 6 blocks - 2 years 8 blocks (or a train with 4 blocks) - 2.5 years

Answer 777

``` Line - 2 years Circle - 3 years Cross - 3.5 years Square - 4 years Triangle - 5 years ```

Answer 778

3-4 months.

Answer 779

10 months.

Answer 780

12 months.

Answer 781

18 months.

Answer 782

20-24 months.

Answer 783

2.5-3 years.

Answer 784

6-8 months.

Answer 785

10-12 months.

Answer 786

12 months.

Answer 787

18 months.

Answer 788

18-24 months.

Answer 789

2.5-3 years.

Answer 790

``` Primitive reflexes: Moro Grasp Rooting Stepping Asymmetrical tonic neck reflex ``` ``` Postural reflexes: Labyrinthine righting Postural support Lateral propping Parachute ```

Answer 791

Piaget's model.

Answer 792

The child health surveillance and promotion programme.

Answer 793

Screen for developmental problems in children: Schedule of growing skills Denver developmental screening test Assess overall development of infants and young children: Griffiths Infant Development Scale Bailey Infants Development Scale ``` Assess specific aspects of development: Reynell Language Scale Gross Motor Function Measure Autism Diagnostic Interview Autism Diagnostic Observation Schedule ``` Measure cognitive function: IQ Tests

Answer 794

A programme of screening tests, immunisations, developmental reviews and health promotion from pregnancy through to 19 years of age.

Answer 795

``` Antenatal health promoting visit New baby review 6-8 week assessment 1 year assessment 2-2.5 year review ```

Answer 796

``` Otoacoustic emission (OAE) test - an earphone produces a sound which evokes an echo or emission from the ear if the cochlear function is normal Auditory brainstem response (ABR) Audiometry - computer analysis of EEG waveform evoked in response to auditory stimuli ``` NOTE: OAE is offered for all babies in the UK.

Answer 797

Delay in the acquisition of at least 2 domains of development. It usually becomes apparent within the first 2 years of life.

Answer 798

Central motor deficit (e.g. cerebral palsy) Congenital myopathy/primary muscle disease Spinal cord lesions (e.g. spina bifida) Global developmental delay

Answer 799

> 1 years old. Hand preference before this age is always abnormal and may be a feature of underlying hemiplegia.

Answer 800

Definition: a permanent disorder of movement and/or posture and of motor function due to a non-progressive abnormality in the developing brain. Causes: Antenatal (80%) - cerebrovascular haemorrhage or ischaemia, gene deletions etc. Hypoxic-ischaemic injury (10%) - before or during delivery Postnatal (10%) - meningitis, encephalitis, head trauma, hydrocephalus etc.

Answer 801

Periventricular leukomalacia

Answer 802

``` Based on neurological features: Spastic (90%) Dyskinetic (6%) Ataxic (4%) Other (minimal) ```

Answer 803

Using the Gross Motor Functional Classification System (GMFCS): Level 1 - walk without limitations Level 2 - walk with limitations Level 3 - walks using a handheld mobility device Level 4 - self-mobility with limitations, may use powered mobility Level 5 - transported in a manual wheelchair

Answer 804

Presentation: Increased limb tone (spasticity) - velocity-dependent, may lead to dynamic catch Brisk tendon reflexes Extensor plantar response Three main types: Unilateral (hemiplegia) - usually arm > leg Bilateral (quadriplegia) - all 4 limbs affected Bilateral (diplegia) - all 4 limbs affected but legs > arms

Answer 805

Periventricular leukomalacia.

Answer 806

Dyskinesia refers to movements that are involuntary, uncontrolled, occasionally stereotyped and often more evident than active movement or stress. Types of dyskinesia: Chorea - irregular, sudden and brief non-repetitive movements Athetosis - slow writhing movements occurring more distally Dystonia - simultaneous contraction of agonist and antagonist muscles of the trunk and proximal muscles Which part of the brain is usually damaged? Basal ganglia and associated pathways (extra-pyramidal). What is the most common cause? Hypoxic-ischaemic encephalopathy (HIE).

Answer 807

A treatment option for cerebral palsy where some of the nerve roots of the spinal cord are cut to reduce spasticity.

Answer 808

``` Symbolic toy test Reynell test (for receptive end expressive aphasia) ```

Answer 809

Age of presentation: 2-4 years as this is when language and social skills rapidly develop. Triad of difficulties: Impaired social interaction Speech and language disorder Imposition of routines with ritualistic and repetitive behaviours Associated co-morbidities: General learning and attention difficulties Seizures Affective disorders (anxiety, sleep disturbance) Mental health disorders (ADHD) Formal standardised tests for ASDs: Autism diagnostic interview Autism diagnostic observation schedule Diagnostic interview for social and communication disorders

Answer 810

A disorder of motor planning and/or execution with no significant findings on neurological examination.

Answer 811

A disorder of reading skills disproportionate to the child's IQ - it is generally when the child's reading age is > 2 years behind his/her chronological age.

Answer 812

Stimulants: Methylphenidate Dexamphetamine Non-stimulants: Atomoxetine

Answer 813

Sensorineural - caused by a lesion in the cochlea or auditory nerve and usually present at birth (often causing permanent childhood hearing impairment (PCHI). Conductive - from abnormalities of the ear canal for the middle ear, most often from otitis media with effusion (glue ear).

Answer 814

Early amplification with hearing aids - monitor the use of hearing aids closely as children do not like wearing them.

Answer 815

Down syndrome Cleft palate Atopy

Answer 816

Impedence audiometry tests - these measure air pressure within the middle ear and the compliance of the tympanic membrane.

Answer 817

Obvious ocular malformation (e.g. anophthalmia) - this may present with absent red or white reflex (leukocoria) Not smiling by 6 weeks Concerns about poor visual responses e.g. eye contact Roving eye movements Nystagmus Squint (strabismus)

Answer 818

Repetitive, involuntary, rhythmical eye movement

Answer 819

Refer to specialist if the squint persists beyond 3 months (transient misalignment of visual axes is common up to 3 months). Most common cause: Refractive error (e.g. hypermetropia etc.). Other causes include retinoblastoma and cataracts. Classification of squints: Concomitant (non-paralytic, common) - due to refractive error, correcting this error often fixes squint. Paralytic (rare) - varies with gaze direction due to paralysis of motor nerves - can be due to space-occupying lesion such as brain tumour.

Answer 820

Pen torch is held at a distance to produce reflections on both corneas simultaneously. Reflection is in a different position in the 2 eyes because of the squint.

Answer 821

The child focuses on a light/toy - if the fixing eye is covered, the squinting eye will move to take up fixation.

Answer 822

Hypermetropia (long-sightedness).

Answer 823

Definition: potentially permanent reduction of visual acuity in an eye that is not receiving a clear image. Most common causes: Squint Refractive errors Obstruction of visual pathway (e.g. cataracts)

Answer 824

``` Disorders leading to toxicity due to an accumulated metabolite: Aminoacidopathies Urea cycle disorders Organic acidaemias Carbohydrate disorders Neurotransmitter disorders ``` Disorders of energy metabolism: Mitochondrial disorders Fatty acid oxidation disorders Glycogen storage disorders Disorders of complex organelles: Lysosomal storage disorders Peroxisomal disorders

Answer 825

Family history of inborn error of metabolism Family history of sudden unexplained deaths, epilepsy pr learning difficulties Consanguinity

Answer 826

Autosomal recessive.

Answer 827

Familial hypercholesterolaemia.

Answer 828

``` Bloods: Amino acids and acyl-carnitines Ammonia Beutler screening test Very long chain fatty acids White cell enzymes Lactate ``` Urine: Organic acids Amino acids Glycosaminoglycans and oligosaccharides

Answer 829

``` Phenylketonuria MCAD deficiency Glutaric acuduria type 1 (GA1) Isovaleric acidaemia Homocystinuria Maple syrup urine disease (MSUD) ```

Answer 830

Anion gap = [Na + K] - [Cl + HCO3] Normal range: 10-16 mmol/L Most common causes of elevated anion gap: Lactic acidosis Ketoacidosis

Answer 831

Urea cycle (mainly taking place in the liver).

Answer 832

``` Presentation: Unexplained encephalopathy Respiratory acidosis Recurrent vomiting Unexplained seizures Unexplained severe illness ``` ``` Management: Stop feeds Start 10% dextrose IV ammonia scavenging medications and arginine Urgent transfer to PICU ```

Answer 833

A glycogen storage disorder.

Answer 834

Hepatic Muscular Cardiac

Answer 835

Subgroup of glycogen storage disorders: Hepatic. Enzyme deficiency: Glucose-6-phosphatase deficiency leading to severe hypoglycaemia (due to inability to mobilise glucose from glycogen or utilise glucose from gluconeogenesis.

Answer 836

Subgroup of glycogen storage disorders: Muscular. Enzyme deficiency: Myolophosphorylase. At risk of rhabdomyolysis.

Answer 837

Hepatosplenomegaly, developmental regress or seizures.

Answer 838

Urinary glycosaminoglycan and oligosaccharide screen | Blood testing for white cell enzymes

Answer 839

Mucopolysaccharidosis (MPS) - a group of disorders characterised by defective breakdown of glycosaminoglycans. Presentation: Developmental delay Characteristic facies - corneal clouding, thickened skin, coarse facies Management: Supportive Bone marrow transplant in MPS type 1 (does not reverse neurological disease)

Answer 840

These are diseases directly resulting from deficits in energy production by oxidative phosphorylation. They tend to worst affect the organs with the greatest energy demands (brain, heart, kidney, retina, skeletal muscle).

Answer 841

Pathophysiology: Enzyme deficiency results in lipid accumulation in cells and tissues. Excessive storage of fats can cause permanent cellular and tissue damage. This affects the brain, nervous system, liver, spleen and bone marrow. Most common lipid storage disorder: Gaucher disease. Other examples: Fabry Riemann-Pick disease type C Wolman disease

Answer 842

Obesity (familial hypercholesterolaemia is the most common inherited disorder of lipid metabolism).

Answer 843

When do patients present? Children with homozygous FH typically present < 5 years old with lipid depositors (xanthomata). Management of heterozygotes: Low fat diet Statins (from 8 years old) ``` Management of homozygotes: Low fat diet Statin Ezetimibe (Liver transplantation or aphaeresis) ```

Answer 844

Abetalipoproteinaemia

Answer 845

Anti-GAD Anti-islet cell Anti-insulin

Answer 846

``` Smell of acetone on breath Vomiting Dehydration Abdominal pain Kussmaul breathing Hypovolaemic shock Drowsiness Coma and death ```

Answer 847

Random blood glucose > 11.1 mmol/L Urine dipstick: glycosuria, ketonuria Fasting blood glucose > 7 mmol/L High HbA1c

Answer 848

< 48 mmol/mol (6.5%)

Answer 849

Macrovascular: Hypertension Coronary heart disease Cerebrovascular disease Microvascular: Retinopathy Nephropathy Neuropathy

Answer 850

Increase in growth hormone and sex hormones leads to an increase in insulin requirements.

Answer 851

Becauase they have high energy requirements and poor reserves of glucose from gluconeogenesis and glycogenolysis.

Answer 852

Plasma glucose < 2.6 mmol/L.

Answer 853

Epilepsy Severe learning difficulties Microcephaly

Answer 854

``` Excess exogenous insulin Beta-cell tumours (insulinomas) Drug-induced (sulphonylureas) Autoimmune Beckwith-Wiedemann syndrome ```

Answer 855

Liver disease Ketotic hypoglycaemia of childhood (when children rapidly become hypoglycaemia following a short period of starvation due to low glucose reserves) Inborn errors of metabolism (glycogen storage disorders) Hormonal deficiency (e.g. Addison's)

Answer 856

IV glucose infusion (max 5ml/kg of 10% glucose bolus followed by 10% glucose infusion) or orally Avoid excess glucose because it is hypertonic and can cause cerebral oedema IM glucagon if IV access is delayed Steroids if there is pituitary/adrenal dysfunction

Answer 857

It is hypertonic and can cause cerebral oedema.

Answer 858

Reverse T3 - a largely inactive derivative of T3.

Answer 859

Within 1 week of life.

Answer 860

Because it is a preventable cause of severe learning difficulties.

Answer 861

Maldescent of the thyroid and athyrosis Dyshormonogenesis - inborn error of thyroid hormone synthesis Iodine deficiency (most common cause worldwide) TSH deficiency - usually associated with pituitaery dysfunction

Answer 862

Raised TSH in the blood. NOTE: Hypothyroidism that is secondary to pituitary abnormalities will not be picked up during this screening because they have a low TSH.

Answer 863

Autoimmune thyroiditis (Graves' disease).

Answer 864

Down syndrome | Turner syndrome

Answer 865

Autoimmune thyroiditis (Graves' disease) secondary to production of thyroid-stimulating antibodies.

Answer 866

Carbimazole and propylthiouracil (for roughly 2 years) Beta-blockers (symptomatic) Other options = radioiodine, surgery

Answer 867

It can cause neutropenia - seek urgent blood count if patient has a sore throat or fever.

Answer 868

Promote bone resorption via osteoclasts Increase renal uptake of calcium Active metabolism of vitamin D to promote gut absorption of calcium

Answer 869

Low calcium High phosphate Normal ALP Low PTH

Answer 870

Congenital deficiency - DiGeorge syndrome - no thymus and no parathyroid, cardiac abnormalities. NOTE: Hypoparathyroidism can also be caused by autoimmune disorders associated with Addison's disease.

Answer 871

What is it? End-organ resistance to PTH. Biochemical findings: Abnormal serum calcium Abnormal serum phosphate PTH is normal/high ``` Associated abnormalities: Short stature Obesity Subcutaneous nodules Short fourth metacarpals Learning difficulties ```

Answer 872

A similar condition to pseudohypoparathyroidism BUT calcium, phosphate and PTH are normal.

Answer 873

Acute hyopocalcaemia: IV calcium gluconate Chronic hypocalcaemia: Oral calcium High-dose vitamin D analogues

Answer 874

Hypercalciuria can lead to nephrocalcinosis.

Answer 875

William syndrome.

Answer 876

Rehydration Diuretics Bisphosphonates

Answer 877

Congenital adrenal hyperplasia.

Answer 878

Most common pattern of inheritance: autosomal recessive. Most common causative deficiency: 21-alpha hydroxyls deficiency. Why do we see high potassium and low sodium in 70-80% of patients? Because 70-80% of cases are unable to produce aldosterone, leading to salt loss.

Answer 879

Because in the foetus, a lack of cortisol stimulates pituitary production of ACTH, which stimulates overproduction of adrenal androgens.

Answer 880

Elevated 17-alpha hydroxyprogesterone. ``` There will also be biochemical abnormalities in salt-losers: Low sodium High potassium Metabolic acidosis Hypoglycaemia ```

Answer 881

Corrective surgery in affected females (wait until puberty) Life-long glucocorticoids (hydrocortisone) to suppress ACTH Mineralocorticoids (fludrocortisone) if there is salt loss

Answer 882

``` Causes: Autoimmune process Haemorrhage/infarction X-linked adrenoleucodystrophy TB ``` ``` Presentation: Low sodium/high potassium Low glucose Dehydration Hypotension Growth failure Circulatory collapse Vomiting Lethargy Buccal, palmar crease pigmentation ```

Answer 883

Diagnosis: Biochemical features (low sodium, high potassium, metabolic acidosis, hypoglycaemia) Low plasma cortisol High plasma ACTH Short synacthen test - DIAGNOSTIC - cortisol remains low after administration of synacthen Management of crisis: IV saline IV glucose IV hydrocortisone Long-term: Mineralocorticoid and glucocorticoid replacement (fludrocortisone and hydrocortisone)

Answer 884

Most common cause: long-term glucocorticoid treatment for nephrotic syndrome or asthma. Other causes: Pituitary adenoma (excess ACTH) Ectopic ACTH-producing tumours Adrenocortical tumours ``` Diagnosis: High midnight cortisol High 24 hour urine free cortisol Failure to suppress cortisol on dexamethasone suppression test Imaging for adrenal or pituitary tumours ``` Management: Adrenal tumours - adrenalectomy Pituitary tumours - trans-sphenoidal hypophysectomy, resection or radiotherapy

Answer 885

the SRY gene on the Y chromosome - it is responsible for differentiation of the biopotential gonad into the testis. The subsequent production of testosterone and dihydrotestosterone results in development of male genitalia.

Answer 886

Excessive androgens producing virilisation in a female - due to congenital adrenal hyperplasia Inadequate androgen production producing under-virilisation in males - due to androgen insensitivity syndrome, or 5-alpha reductase deficiency Gonadotrophin insufficiency - seen in Prader-Willi and congenital pituitary dysfunction Ovotesticular DSD (aka hermaphroditism) - caused by presence of both XX-containing cells and XY-containinng cells in the foetus leading to presence of ovarian and testicular tissue

Answer 887

Karyotyping Adrenal hormone levels Sex hormone levels

Paediatrics Flashcards

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