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Updated: Dec 19, 2025
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Hirschsprung disease and anorectal malformations - An uncommon association
Raphael N Vuille-Dit-Bille1, Luis de La Torre1, Jennifer Hall1
1International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, Aurora, CO, USA.
Background:
The simultaneous occurrence of Hirschsprung disease (HD) and anorectal malformation (ARM) is extremely rare, with only a very limited amount of cases published in the literature. Constipation is a major problem in patients operated for ARM, and biopsies from the distal rectum in patients with ARM may not show ganglion cells owing to different reasons, leading to a false positive diagnosis of HD. A pull-through procedure for HD after previous anorectoplasty for ARM always leads to fecal incontinence. The aim of the present study was to assess the incidence of simultaneous diagnoses of ARM and HD in a single large cohort of ARM patients and to demonstrate that biopsies from the anal canal, which are negative for ganglion cells, may mislead to a diagnosis of HD.
Materials And Methods:
A retrospective review of our database from 1980 to 2018 identified 164 patients with HD and 2397 patients with ARM. Four patients suffered from both HD and ARM.
Results:
The incidence of HD in ARM patients was 4/2397 = 0.17%, and the incidence of ARM in HD patients was 4/164 = 2.4%.
Conclusion:
Our results strongly suggest that the association of ARM and HD is less common than previously reported.
Type Of Study:
Therapeutic LEVEL OF EVIDENCE: IV.
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