Paeds 8B

Question 1

how does subluxation of the patella present?

Answer 1

Sudden lateral dislocation of the patella
Very painful
Feeling of instability/giving way
Requires reduction and immobilisation

Question 2

How many joints must be affected to be classified as polyarticular juvenile idiopathic arthritis?

Answer 2

More than 4

Question 3

Describe the difference in the iron content of breast milk and cows milk.

Answer 3

Breast milk - low iron content, high absorption

Cows milk - high iron content, low absorption

Question 4

List some clinical features of Edwards syndrome.

Answer 4

Low-set ears 
Small chin 
Microcephaly
Overlapping fingers 
Rocker-bottom feet 
Cardiac defects (VSDs) 
Renal anomalies 
Learning disability 
90% death within 1 year

Question 5

List some clinical features of Patau syndrome.

Answer 5

Structural brain defects 
Small eyes
Polydactyly
Cardiac/renal malformations 
Death within 1 year

Question 6

List some clinical features of Klinefelter’s syndrome.

Answer 6

Most common cause of male hypogonadism
Small firm testes 
Tall 
Behavioural problems 
Delayed speech 
Gynaecomastia

Question 7

List some clinical features of fragile X syndrome.

Answer 7

Moderate learning difficulties (most common genetic cause of learning difficulties)
Macrocephaly 
Large testes 
Large ears 
Long face 
Prominent mandible and forehead

Question 8

How is fragile X syndrome inherited?

Answer 8

X-linked dominant

Female carriers may have mild learning difficulties

Question 9

What is Still’s disease?

Answer 9

Systemic form of JIA thought to be of autoimmune origin

Intermittent pyrexia
Salmon-pink rash
Aches and pains of joints and muscles

Question 10

List some clinical features that are common to all congenital TORCH infection.

Answer 10

Low birth weight 
Prematurity 
Jaundice 
Microcephaly 
Seizures 
Anaemia 
Failure to thrive 
Encephalitis

Question 11

Which medication is used to chelate lead in lead poisoning?

Answer 11

EDTA (ethylene diamine tetraacetic acid)

NOTE: it present with encephalopathic features (e.g. behavioural problems, pica) and causes a hypochromic microcytic anaemia with basophilic stippling

Question 12

Which other condition can present very similarly to acute epiglottitis?

Answer 12

Retropharyngeal abscess (causes fever, drooling, dysphagia and stridor)
Typically has a longer history than acute epiglottitis (over a few days)

Question 13

Which murmur is typically heard in tetralogy of Fallot?

Answer 13

Ejection systolic murmur heard best in the 3rd intercostal space with a single heart sound

Question 14

Which tumour markers can be used for neuroblastoma?

Answer 14

Urinary catecholamines

Question 15

What is a craniopharyngioma?

Answer 15

Rare type of brain tumour derived from pituitary gland embryonic tissue

Question 16

Which tissue does neuroblastoma arise from?

Answer 16

Neural crest tissue in the adrenal medulla and sympathetic nervous system

NOTE: MIBG scans are used to identify neurblastoma tissue

Question 17

Which tissue does nephroblastoma arise from?

Answer 17

Embryonal renal tissue

Question 18

What is the most common type of malignant bone tumour in children?

Answer 18

Osteosarcoma

NOTE: Ewing is common in younger children

Question 19

Describe the inheritance pattern of retinoblastoma.

Answer 19

Autosomal dominant

Located on chromosome 13

Question 20

What is a common benign cause of proteinuria in children?

Answer 20

Orthostatic (postural) proteinuria

Proteinuria is only found when the child is upright during the day

Question 21

List some features of Fanconi syndrome.

Answer 21

Polydipsia and polyuria
Salt depletion and dehydration 
Hyperchloraemic metabolic acidosis 
Rickets 
Faltering growth

Question 22

List some causes of heart failure in neonates.

Answer 22

Hypoplastic left heart syndrome
Critical aortic valve stenosis
Severe coarctation of the aorta
Interruption of the aortic arch

Question 23

Which congenital heart defect is most commonly seen in DiGeorge syndrome?

Answer 23

Interrupted aortic arch

Others include persistent truncus arteriosus, TOF and VSD

Question 24

What are some features suggestive of atypical UTI?

Answer 24

Seriously ill
Poor urine flow 
Abdominal mass 
Raised creatinine 
Septicaemia
Failure to respond to antibiotic treatment 
Infection with non-E. coli organisms