In a neonate with suspected Hirschsprung disease, which is the gold standard investigation for diagnosis and for delineating the extent of aganglionosis?
- A Anorectal manometry showing absent rectoanal inhibitory reflex (RAIR)
- B Contrast enema showing transition zone at the rectosigmoid junction
- C Suction rectal biopsy showing absence of ganglion cells and acetylcholinesterase-positive nerve fibre hypertrophy on histochemistry ✓
- D Full-thickness rectal biopsy under general anaesthesia in all cases
Explanation
Suction rectal biopsy is the gold standard investigation for Hirschsprung disease. It is a safe, bedside procedure that provides tissue from the submucosal plane for histological examination. Definitive diagnosis requires demonstration of absent ganglion cells in the Meissner (submucosal) plexus plus hypertrophic acetylcholinesterase-positive nerve fibres on histochemistry (staining for AChE in the muscularis mucosae and submucosal plexus). Anorectal manometry (absent RAIR) is a functional screening test but not diagnostic. Contrast enema identifies the transition zone but is not diagnostic in neonates (may be absent). Full-thickness biopsy is used only when suction biopsy is inconclusive.
Reference: Bailey & Love's Short Practice of Surgery, 27th ed.
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Written and medically reviewed by the StethoPrep medical team.