Paediatrics Flashcards

A 2-month-old infant presents with conjugated hyperbilirubinaemia, pale stools, and dark urine. Ultrasound shows absent gallbladder. What is the most likely diagnosis and what urgent investigation is needed?

Answer: Biliary atresia — HIDA scan and intraoperative cholangiogram

Biliary atresia presents with conjugated hyperbilirubinaemia, pale (acholic) stools, and dark urine. Absent gallbladder on ultrasound supports the diagnosis. HIDA scan shows non-excretion of tracer into the bowel. Kasai portoenterostomy must be performed before 60 days of age for best outcomes.

A 15-year-old obese boy presents with a limp and groin pain. X-ray shows posterior displacement of the femoral epiphysis. What is the diagnosis?

Answer: Slipped capital femoral epiphysis (SCFE)

Slipped capital femoral epiphysis (SCFE) typically affects obese adolescents (10-16 years) and presents with hip/groin/knee pain and a limp. X-ray shows posterior and inferior displacement of the femoral epiphysis relative to the neck (Trethowan sign). Urgent surgical pinning is required.

A child with a febrile seizure is brought to the emergency department. Which of the following features would classify it as a complex febrile seizure?

Answer: Duration of 20 minutes, focal onset

Complex febrile seizures are characterised by one or more of: duration >15 minutes, focal features, recurrence within 24 hours, or Todd paralysis. A 20-minute seizure with focal onset meets criteria for a complex febrile seizure requiring further investigation.

A newborn presents with ambiguous genitalia, hypotension, hyperkalaemia, and hyponatraemia. 17-hydroxyprogesterone level is markedly elevated. What is the most likely diagnosis?

Answer: Congenital adrenal hyperplasia (21-hydroxylase deficiency)

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of ambiguous genitalia with salt-wasting crisis (hyponatraemia, hyperkalaemia). Elevated 17-hydroxyprogesterone is the diagnostic marker. It is more common in consanguineous populations.

A 7-year-old child presents with a sore throat, fever, and a fine sandpaper-like rash that spares the face. There is circumoral pallor and a strawberry tongue. What is the diagnosis?

Answer: Scarlet fever

Scarlet fever is caused by group A beta-haemolytic Streptococcus (GAS) producing erythrogenic toxin. The sandpaper rash, circumoral pallor, and strawberry tongue are classic features. Treatment with penicillin prevents rheumatic fever.

A 4-month-old infant is found to have developmental hip dysplasia on screening. What is the most appropriate initial treatment?

Answer: Pavlik harness

For infants under 6 months with developmental dysplasia of the hip (DDH), the Pavlik harness is the first-line treatment. It maintains the hip in flexion and abduction, promoting concentric reduction and acetabular development. Success rate is approximately 90% when started early.