SUSPECTED HIRSCHSPRUNG DISEASE PRESENTING IN ADULTHOOD WITHCHRONIC CONSTIPATION AND ACUTE LARGE BOWEL OBSTRUCTION: ACASE ON NEGLECTED DIAGNOSIS
DOI:
https://doi.org/10.63735/Abstract
Hirschsprung disease (HD) is classically diagnosed in infancy. However, rare presentations
in adulthood may be overlooked due to their atypical course. We present a 26-year-old male
with lifelong constipation and a recent acute bowel obstruction. His early history included
failure to pass meconium and a missed follow-up rectal biopsy in infancy. Imaging revealed
megacolon with distal narrowing, raising suspicion of HD. The diagnosis of HD however
was not confirmed histologically and remained a clinical and radiological suspicion, due to
refusal of the patient and family for biopsy. Delayed recognition of HD may result in serious
complications. Clinicians should maintain vigilance for congenital motility disorders in
adults with refractory constipation.
References
De Lorijn F, Kremer LCM, Reitsma JB, et al. Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr. 2006;42(5):496-505.
Zhu H, Wang W. Is adult Hirschsprung’s disease really rare? Report of 20 cases and literature review. Int J Colorectal Dis. 2010;25(8):1031-1037.
Miyamoto M, Egami K, Maeda S, et al. Hirschsprung's disease in adults: report of a case and review of the literature. J Nippon Med Sch. 2005;72(2):113-120.
Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of sphincter for benign spastic lesions producing megacolon. Surgery. 1948;24(2):212-220.
Downloads
Published
Issue
Section
License
Copyright (c) 2026 Baqai Journal of Health Sciences
This work is licensed under a Creative Commons Attribution 4.0 International License.
