Hirschsprung's disease (aganglionosis) is diagnosed by rectal suction biopsy. The definitive histological criterion is:

• A Hypertrophy of the internal anal sphincter muscle
• B Increased acetylcholinesterase staining in the muscularis propria only
• C Absence of ganglion cells in the submucosal (Meissner's) and myenteric (Auerbach's) plexuses with hypertrophied nerve trunks ✓
• D Presence of heterotopic gastric mucosa in the rectosigmoid region

Explanation

The definitive histological diagnosis of Hirschsprung's disease requires demonstrating absence of ganglion cells in both the submucosal (Meissner's) and myenteric (Auerbach's) plexuses, along with hypertrophy/prominence of nerve trunks on routine H&E staining. Acetylcholinesterase histochemistry shows increased staining in the lamina propria and muscularis mucosae — a supportive but not standalone finding. Immunostaining for calretinin (absent in aganglionic segments) is an adjunct marker. Rectal suction biopsy must sample submucosal tissue above the physiologically narrow internal sphincter zone (>2 cm from dentate line in neonates).

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

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Written and medically reviewed by the StethoPrep medical team.