Hirschsprung in Down Syndrome — RACP Paediatrics MCQ

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ModerateNeonatologyHirschsprung in Down SyndromeRACP Paediatrics

Term newborn with trisomy 21 fails to pass meconium in 48h. X-ray shows diffuse bowel dilatation. Most common associated GI anomaly causing this presentation?

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Correct answer: D — Hirschsprung disease

Hirschsprung disease is 2-15% prevalent in Down syndrome. Diffuse dilatation suggests distal obstruction.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Hirschsprung Disease