Two episodes of colon perforation within a short period in a patient with features of the vascular type of ehlers-danlos syndrome

Abstract

A 21-year-old woman underwent emergency surgery under a diagnosis of intestinal perforation in February 2008. Perforation of the rectum due to stool impregnation was identified, followed by peritonitis. The rectum including the perforation site was resected and a colostomy was made at the sigmoid colon. However, 39 days after discharge, sigmoid colon perforation under the colostomy was found, requiring another emergency operation. The presence of an undergoing illness was suspected because of the two colon perforations in a short period, the ease of intestinal injury and weak arterial tissue found twice intra-operatively, as well as the vulnerabilities of vessels, tissues, and joints on past history. Skin biopsy was performed for pathology and gene analysis. She was diagnosed as having the vascular type of Ehlers-Danlos syndrome. It is necessary to suspect this syndrome in young cases of non-induced colon perforation. Close follow-up is essential after the diagnosis.