Abstract
A 32-year-old female with trisomy 8 and Sjögren syndrome who had been treated for myelodysplastic syndrome was admitted for the evaluation of right lower quadrant pain and fever. Fasting and antimicrobial therapy provided temporary symptomatic improvement, but the abdominal pain relapsed on the 9th day after admission, and the patient was diagnosed on abdominal CT scan as having an acute generalized peritonitis possibly due to perforation of the gastrointestinal tract. On emergent open surgery, two perforated lesions were found, one in the ascending colon and the other in the terminal ileum ; thus, the patient required a right hemicolectomy with a temporary end ileostomy. On histopathology, the ileocecal lesions were classified as non-specific ulcers. The patient had characteristic clinical findings such as oral aphthous ulceration, acne-like facial eruption, and finger arthritis which, in addition to the ileal ulcer perforations, allowed a definitive diagnosis of intestinal Behçet's disease to be made. An increasing number of intestinal Behçet's disease cases associated with myelodysplastic syndrome and trisomy 8 have been recently reported. In such cases, lower gastrointestinal studies must be planned as early as possible, since the ulcer lesions in the ileocecal region are at risk of perforation.
