Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature. | Rana et al. Journal of Medical Case Reports 2011 5 229 http content 5 1 229 JOURNALOF medical case reports CASE REPORT Open Access Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV a case report and review of the literature 1 z- A 1 1 2 3 1 Mariam Rana Omer Aziz Sanjay Purkayastha Josephine Lloyd John Wolfe and Paul Ziprin Abstract Introduction Colonoscopic perforation is a rare but serious complication of colonoscopy. Factors known to increase the risk of perforation include colonic strictures extensive diverticulosis and friable tissues. We describe the case of a man who was found to have perforation of the sigmoid colon secondary to an undiagnosed connective tissue disorder Ehlers-Danlos syndrome type IV while undergoing surveillance for hereditary nonpolyposis colorectal cancer. Case presentation A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical history included bilateral clubfoot. His physical examination findings suggested left iliac fossa peritonitis. A computed tomographic scan revealed perforation of the sigmoid colon and incidentally a right common iliac artery aneurysm as well. Hartmann s procedure was performed during laparotomy. The patient recovered well post-operatively and was discharged. Reversal of the Hartmann s procedure was performed six months later. This procedure was challenging because of dense adhesions and friable bowel. The histology of bowel specimens from this surgery revealed thinning and fibrosis of the muscularis externa. The patient was subsequently noted to have transparency of truncal skin with easily visible vessels. An underlying collagen vascular disorder was suspected and genetic testing revealed a mutation in the collagen type III a1 COL3A1 gene which is consistent with a diagnosis of Ehlers-Danlos syndrome type IV. .
