Hirschsprung's disease other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Overview

Other diagnostic studies include rectal biopsy, barium enema, and anorectal manometry. A rectal biopsy, which will show an absence of ganglionic cells, is the gold standard confirmatory test for Hirschsprung’s disease.^[1]^[2]

A rectal biopsy presenting the absence of ganglionic cells is the gold standard confirmatory test for Hirschsprung’s disease.^[1]^[2]

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

↑ ^1.0 ^1.1 Wetherill C, Sutcliffe J (2014). “Hirschsprung disease and anorectal malformation”. Early Hum. Dev. 90 (12): 927–32. doi:10.1016/j.earlhumdev.2014.09.016. PMID 25448783.
↑ ^2.0 ^2.1 Das K, Mohanty S (2017). “Hirschsprung Disease – Current Diagnosis and Management”. Indian J Pediatr. doi:10.1007/s12098-017-2371-8. PMID 28600660.