Hirschsprung disease and anorectal malformations - An uncommon association.
Aganglionosis
Anorectal malformation
Hirschsprung disease
Imperforate anus
Trisomy 21
Journal
Journal of pediatric surgery
ISSN: 1531-5037
Titre abrégé: J Pediatr Surg
Pays: United States
ID NLM: 0052631
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
01
04
2020
revised:
04
05
2020
accepted:
11
05
2020
pubmed:
9
6
2020
medline:
25
6
2021
entrez:
9
6
2020
Statut:
ppublish
Résumé
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. 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. 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%. Our results strongly suggest that the association of ARM and HD is less common than previously reported. Therapeutic LEVEL OF EVIDENCE: IV.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
Our results strongly suggest that the association of ARM and HD is less common than previously reported.
TYPE OF STUDY
METHODS
Therapeutic LEVEL OF EVIDENCE: IV.
Identifiants
pubmed: 32507634
pii: S0022-3468(20)30329-8
doi: 10.1016/j.jpedsurg.2020.05.016
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
487-489Informations de copyright
Copyright © 2020 Elsevier Inc. All rights reserved.