抄録
Gastrointestinal ulcerations occur in some patients with Behçet’s disease. Juvenile BD is rare group,
and gastrointestinal involvement occured more frequently than eye involvement in this age.
We describe a 2-year-old girl, presented with high grade fever and abdominal pain. Colonoscopy
showed deep ulcers in the end of the ileum and the lower part of the ascending colon. She was diagnosed as
intestinal Behçet’s disease. Her symptoms were not resolved with high dose corticosteroid and colchicine, so
she was given methotrexate and infliximab. One month after administration of infliximab, colonoscopy
showed ileocecal ulcers were improved. But abdominal pain and fever relapsed under steroid tapering. It
seemed to be the second invalidity of the infliximab, so adalimumab was administrated with high dose
corticosteroid and mycophenolate mofetil, then symptoms resolved.
Her whole exome sequence was conducted, and detected two places of mutations in MSH6 , but it’s
significance in Behçet’s disease was unknown. Like other inflammatory bowel disease, we should consider
genetic search in very young onset Behçet’s disease.
