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Hirschsprung Disease in Down Syndrome — RACP Paediatrics MCQ

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ModerateGastroenterologyHirschsprung Disease in Down SyndromeRACP Paediatrics

A 4-year-old child with Down syndrome has constipation from birth with massive distension and a transition zone on contrast enema. What should be considered?

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Correct answer: E — Hirschsprung disease

Down syndrome has 2-15% incidence of Hirschsprung disease. Constipation from birth with transition zone requires rectal suction biopsy.

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