paeds

Question 1

whooping cough mgt

Answer 1

azithromycin/ clarithromycin if onset of sx within past 21 days

Question 2

fracgile X syndrome features (in males)

Answer 2

• LD
• large low set ears, long thin face, high arched palate
• hypotonia
• autism
• mitral valve prolapse
• large testes

Question 3

Patau syndrome (trisomy 13) features (4)

Answer 3

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Question 4

Edward’s syndrome (trisomy 18)
features (4)

Answer 4

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers

Question 5

Noonan syndrome (4)

Answer 5

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

Question 6

Prader-Willi syndrome (3)

Answer 6

Hypotonia
Hypogonadism
Obesity

Question 7

William’s syndrome (5)

Answer 7

Short stature
Learning difficulties
Friendly, extrovert personality
Transient neonatal hypercalcaemia
Supravalvular aortic stenosis

Question 8

causes of neonatal jaundice in 1st 24hrs

Answer 8

rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase

Question 9

causes of prolonged jaundice (after 24hrs)

Answer 9

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