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General Surgery · Paediatric GI surgery: Hirschsprung disease
Sample itemA full-term neonate has not passed meconium for 3 days and has abdominal distension and bilious vomiting. A digital rectal examination is followed by an explosive gush of stool and gas, and the distension eases. Which investigation confirms the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
C. Rectal suction biopsy showing absence of ganglion cells
Hirschsprung disease results from failure of neural crest cells to migrate to the distal gut, leaving an aganglionic segment that stays contracted. The definitive diagnosis is histological: absent ganglion cells with hypertrophic nerve trunks and increased acetylcholinesterase staining on a rectal suction biopsy. Contrast enema and radiographs only support the diagnosis.
Option by option
A. Plain abdominal radiograph showing dilated bowel loops
A plain film shows distal obstruction but is non-specific and is also seen in ileal atresia or meconium ileus.
B. Anorectal manometry in the neonatal period
Manometry showing absent rectoanal inhibitory reflex is unreliable in neonates and is used in older children.
C. Rectal suction biopsy showing absence of ganglion cells (correct)
Histology of the rectal wall is the gold standard and confirms aganglionosis.
D. Barium enema showing a transition zone
A barium enema shows a transition zone and delayed evacuation, but it supports rather than confirms the diagnosis.
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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