Patients with anorectal malformation and Hirschsprung's disease
Abstract
BACKGROUND: Dysganglionosis and aganglionosis have been frequently described in biopsies of the distal bowel in patients with anorectal malformation (ARM). They are interpreted as a developmental disorder of the anorectum. The true association of total colonic aganglionosis and anorectal malformation has not been reported before. The aim of this study was to explore the true association of anorectal malformation and Hirschsprung's disease with or without trisomy 21.
MATERIAL & METHODS: A retrospective study of all patients diagnosed with anorectal malformation in our institute from 1986-2008 was performed. All patients with anorectal malformation and Hirschsprung's disease were included in the study. Rectal biopsies were taken from multiple sites, including the rectum, left, transverse, right colon and appendix. The diagnosis of aganglionosis was proven histopathologically by the absence of ganglion cells with or without acetylcholinesterase staining. Specimens were examined by at least two experienced consultant pathologists.
RESULTS: Aganglionosis was confirmed in three patients out of 53 patients with anorectal malformation. Two had Down's syndrome. All were males and presented with high anorectal malformation without fistula. The clinical presentation was intestinal obstruction, necrotizing enterocolitis and failure to thrive. The level of aganglionosis was up to the left colon in two and total colonic with ileal involvement in one. One of the children with Down's…
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health. Reported size: 53 participants or records.
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