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Hirschsprung neural crest migration — MRCPCH TAS MCQ

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HardEmbryologyHirschsprung neural crest migrationMRCPCH TAS

A term infant has delayed passage of meconium, abdominal distension and explosive stool after rectal examination. Rectal biopsy shows absent ganglion cells. What is the most likely developmental mechanism?

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Correct answer: A — Failed neural crest migration into distal bowel

Hirschsprung disease is caused by failed neural crest cell migration, leading to aganglionosis of the distal bowel. Abnormal duodenal recanalisation causes duodenal atresia rather than distal functional obstruction. The pearl is that the rectum is involved in classic Hirschsprung disease.

Reference: Gray's Anatomy; Nelson Textbook of Pediatrics; RCPCH Theory examination syllabi