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Anatomy · Embryology: enteric nervous system
Sample itemA term newborn does not pass meconium for 48 hours and has abdominal distension. Contrast enema shows a narrow rectosigmoid with a dilated proximal colon, and rectal biopsy shows absent ganglion cells. What is the embryological basis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Failure of neural crest cells to migrate into the distal colon
Hirschsprung disease arises when neural crest-derived enteric neuroblasts fail to complete their craniocaudal migration (often RET mutation), so the Meissner and Auerbach plexuses are absent in the distal bowel. The aganglionic segment stays contracted, and the proximal colon dilates. Rectal biopsy with acetylcholinesterase staining confirms it.
Option by option
A. Non-rotation of the midgut loop
Non-rotation causes volvulus and bilious vomiting, with normal ganglion cells.
B. Failure of recanalisation of the rectum
Failure of recanalisation causes atresia or stenosis, with ganglia present.
C. Failure of the cloacal membrane to rupture
Failure of the cloacal membrane to rupture gives an imperforate anus.
D. Failure of neural crest cells to migrate into the distal colon (correct)
Correct. Failed neural crest migration leaves an aganglionic distal segment.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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