Abstract
A 22-year-old man was seen at our hospital because of the abrupt onset of lower abdominal pain. Perforation of the lower digestive organ was diagnosed from abdominal CT findings and emergency operation was performed. At surgery sigmoid colon perforation was identified and Hartmann operation was done. He had no family history, but the most likely diagnosis was the vascular type of Ehlers-Danlos syndrome (EDS), because he had had percutaneous hemorrhage, hyper-flexible joints, and translucent skin from his childhood and tissue fragility was confirmed during the operation. On the 34th postoperative day, he suddenly developed abdominal pain and re-operation was performed on an emergency basis with a diagnosis of recurrent perforation. During surgery, a perforated site was found at the oral side of the stoma, and resection of the perforated site and transverse colostomy were done. The patient required intensive treatment after the operation but eventually recovered conservatively. Following a skin biopsy, the definite diagnosis of EDS was made by DNA studies.
EDS is an inherited disorder causing connective tissue fragility. The vascular type is a most serious type of EDS that presents dissection and/or rupture of the arteries and gastrointestinal perforation. When we encounter juvenile patients with lower gastrointestinal perforation, particular attention should be paid to physical findings by keeping a possibility of the disease in mind. Further we should not perform intestinal anastomosis because it entails a risk of inducing re-perforation.
