tailieunhanh - báo cáo khoa học: "Isolated adult hypoganglionosis presenting as sigmoid volvulus: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Isolated adult hypoganglionosis presenting as sigmoid volvulus: a case report | Qadir et al. Journal of Medical Case Reports 2011 5 445 http content 5 1 445 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Isolated adult hypoganglionosis presenting as sigmoid volvulus a case report 1 1 2 1 Irfan Qadir Muhammad Musa Salick Abrar Barakzai and Hasnain Zafar Abstract Introduction Isolated 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 presentation A 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 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. Conclusions Isolated hypoganglionosis is a rare cause of intestinal .