A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

A 15-year-old girl who had chronic constipation presented with peritonitis caused by sigmoid colon perforation. After her sigmoid colon was resected and an end colostomy performed, as there were no apparent causes for perforation, she was followed-up. After the second colonic perforation proximal to the end colostomy, as the pathologic findings revealed myopathic changes, the connective tissue disorders were evaluated. Her molecular biology studies revealed an undefined missense mutation in the COL3A1 gene, confirming the diagnosis of vascular Ehlers-Danlos syndrome (EDS). As she refused a permanent stoma, total colectomy and ileorectal anastomosis were performed, but the postoperative complications resulted in a fatal progression. The typical progression of vascular EDS will be discussed with the presented case by means of a review of the English medical literature on children diagnosed with vascular EDS.