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Pediatrics · Neonatal surgery
Sample itemA term neonate has not passed meconium for 48 hours, with abdominal distension and bilious vomiting. Contrast enema shows a transition zone with a dilated proximal colon and a narrow rectum. Which test establishes the diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Rectal suction biopsy showing absent ganglion cells
Hirschsprung disease is failure of neural crest migration so that the distal bowel lacks myenteric and submucosal ganglion cells. The aganglionic segment cannot relax, causing functional obstruction. Suction rectal biopsy shows absent ganglia, hypertrophic nerve fibres and increased acetylcholinesterase, and treatment is pull-through surgery.
Option by option
A. Upper GI endoscopy
Upper endoscopy does not assess the distal ganglion cells.
B. Serum immunoreactive trypsinogen
Raised immunoreactive trypsinogen screens for cystic fibrosis.
C. Sweat chloride test
Sweat chloride tests for cystic fibrosis, which can cause meconium ileus but with a different contrast enema picture.
D. Rectal suction biopsy showing absent ganglion cells (correct)
Correct. Absent ganglion cells on biopsy confirm 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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