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Hirschsprung disease — RACP Paediatrics MCQ

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HardGastroenterologyHirschsprung diseaseRACP Paediatrics

A term newborn had delayed passage of meconium and now has abdominal distension and vomiting. Rectal examination is followed by explosive stool and flatus. What is the most appropriate investigation?

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Correct answer: B — Rectal suction biopsy

Delayed meconium, distension and explosive stool after rectal examination suggest Hirschsprung disease; rectal suction biopsy demonstrating absent ganglion cells is diagnostic. Pyloric ultrasound would assess non-bilious vomiting in an older infant, not neonatal distal obstruction. The pearl is that contrast enema can support but does not replace histological confirmation.

Reference: RCH Clinical Practice Guidelines: Constipation; Paediatric surgery guidance