Intractable colitis associated with chronic granulomatous disease in a young girl

摘要

Chronic granulomatous disease (CGD) is an autosomal recessive or X-linked disorder caused by NADPH oxidase deficiency leading to an impaired ability of reactive superoxide anion and metabolite formation and recurring severe bacterial and fungal infections, with a high mortality rate. Diarrhea, colitis, ileus, perirectal abscess formation and anal fissures are reported gastro-intestinal findings in these patients. We report a case of intractable colitis associated with CGD in a young girl.