A newborn male has not passed meconium within 48 hours of birth. The abdomen is distended, and digital rectal examination reveals tight anal sphincter tone with an explosive release of foul-smelling liquid stool and flatus upon withdrawal of the examining finger. What is the gold standard diagnostic investigation for Hirschsprung disease?
Answer and explanation
Correct answer: B. Rectal suction biopsy
- Step 1: Hirschsprung disease results from congenital failure of neural crest cells to migrate, leading to an absence of ganglion cells in the submucosal (Meissner) and myenteric (Auerbach) plexuses of the distal rectum.
- Step 2: Rectal suction biopsy demonstrating an absence of ganglion cells and hypertrophied nerve bundles with acetylcholinesterase staining is the gold standard diagnostic test.
Answer
Rectal suction biopsy.
Why not the others: 'Abdominal CT' exposes neonate to ionizing radiation without mucosal histology; 'Barium swallow' examines the upper gastrointestinal tract; 'Serum antibodies' have no diagnostic role in congenital aganglionosis.
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