Abstract
IntroductionIsolated hypoganglionosis is a rare cause of intestinal innervation defects. It is characterized by sparse and small myenteric ganglia, absent or low acetylcholinesterase activity in the lamina propria and hypertrophy of the muscularis mucosae, principally in the region of the colon and rectum. It accounts for 5% of all intestinal neuronal malformations. To the best of our knowledge, only 92 cases of isolated hypoganglionosis were reported from 1978 to 2009. Isolated hypoganglionosis usually manifests as enterocolitis or poor bowel function, and is diagnosed in infancy or childhood. We report the first case of isolated hypoganglionosis presenting with sigmoid volvulus in a 34-year-old woman.Case presentationA 34-year-old Asian woman had progressively increasing abdominal pain and had not passed stool or flatus for two days. A physical examination revealed a distended abdomen with sluggish gut sounds. A computerized tomography (CT) scan demonstrated gross dilatation of the sigmoid colon (maximal diameter 14.3 cm) suggestive of sigmoid volvulus. During emergency laparotomy, sigmoidectomy with a side-to-side colorectal anastomosis was performed. Histopathology of the resected specimen showed occasional ganglion cells and hypertrophied nerve bundles in the muscle layers, suggesting hypoganglionosis. Colonoscopy was performed, and multiple full-thickness biopsies were taken that showed hypoganglionosis of the entire large bowel. Our patient underwent total colectomy with an ileorectal anastomosis. Subsequently our patient reported a dramatic improvement in her bowel function.ConclusionsIsolated hypoganglionosis is a rare cause of intestinal dysganglionosis and cannot be differentiated from Hirschsprung's disease based on clinical presentation. This case report describes an atypical presentation of the disease. A definitive diagnosis requires histopathological analysis of full-thickness intestinal biopsies. Treatment should be tailored to the extent of hypoganglionosis.
Highlights
Isolated hypoganglionosis is a rare cause of intestinal innervation defects
Isolated hypoganglionosis is a rare cause of intestinal dysganglionosis and cannot be differentiated from Hirschsprung’s disease based on clinical presentation
Treatment should be tailored to the extent of hypoganglionosis
Summary
Isolated hypoganglionosis is a rare disease with clinical and epidemiological features similar to Hirschsprung’s disease, the age at diagnosis is higher. Careful examination of full-thickness biopsies is required to make a definitive diagnosis. Consent Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Author details 1General Surgery Department, Aga Khan University Hospital, Stadium Road, Karachi 74800, Pakistan. Authors’ contributions IQ and MMS were involved in data collection, literature review and manuscript preparation. AB selected and annotated appropriate images from histopathology slides and reviewed all available histology to ensure an accurate diagnosis was made. HZ was involved in patient care and revised and corrected the manuscript. All authors have read and approved the final manuscript. Competing interests The authors declare that they have no competing interests
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