Hirschsprung's disease other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Other diagnostic studies include rectal biopsy, barium enema and anorectal manometry. A rectal biopsy showing a lack of ganglionic cells is the gold standard confirmatory test for Hirschsprung's disease.

Other Diagnostic Studies

A rectal biopsy showing a lack of ganglionic cells is the gold standard confirmatory test for Hirschsprung's disease.

Diagnostic Test	FIndings
Rectal biopsy	Absence of ganglion cells Presence of thickened, nonmyelinated nerves Increased activity of acetylcholinesterase; absence of nicotinamide adenine dinucleotide phosphate diaphorase-containing neurons Increase in the amount of acetylcholinesterase-containing nerve bundles
Enema	Contracted distal bowel and dilated proximal bowel, with demonstration of the location of the transition zone in between
Anorectal manometry	Absent anal reflex and increased pressure