Ultrashort-Segment Hirschsprung's Disease Complicated by Megarectum and Obstructive Uropathy: A Case Report

Abstract

Adult Hirschsprung's disease (AHD) is a rare condition characterized by a shortened aganglionic segment in the distal colon or rectum that is diagnosed after the age of 10. Diagnostic challenges stem from its rarity, nonspecific presentation, and often delayed consideration following emergent interventions. This report details the case of a 33-year-old male who presented with chronic constipation and abdominal pain, leading to a severe bowel obstruction attributed to self-reported Hirschsprung's disease (HD). Clinical, radiological, and historical aspects were suggestive of AHD, but definitive diagnostic procedures, including manometry and biopsy, were hindered by the patient's deteriorating condition. Exploratory laparotomy unveiled a secondary small bowel obstruction due to volvulus, necessitating immediate intervention, resulting in the removal of 4000 cc of fecal material. A comprehensive resection involving mid-to-distal transverse colon, left colon, sigmoid colon, and proximal rectum with the creation of Hartman's colostomy was performed due to the patient's worsening clinical status. We present a case of possible ultrashort-segment Hirschsprung's disease (USHD) and sketch a classic presentation of AHD. This endeavor aims to enhance awareness and consideration of AHD and/or USHD within the spectrum of potential diagnoses for chronic constipation when relevant and demonstrate the effectiveness of surgical intervention in this population.