Inflammatory bowel disease-like colitis in glycogen storage disease type lb

Chronic inflammatory bowel disease (IBD)-like colitis is occasionally assoc iated with glycogen storage disease-type 1b (GSD- Ib). We describe a 17-yea r old boy with GSD-1b who developed an IBD-like colitis. Roentgenography an d colonoscopy showed the lead-pipe appearance of the colon and circumferent ial ulcers. Histopathologic examination revealed nonspecific inflammation w ithout granulomatous lesions. High-dose granulocyte-colony stimulating fact or (G-CSF) and sulfasalazine led to the resolution of the colitis, although neutropenia continued. Besides this cast, 10 published cases of GSD-lb and IBD-like colitis were reviewed. All cases had severe neutropenia and/or ne utrophil dysfunction. The mean onset of bowel; disease was 12.3 years of ag e. Seven cases required surgical treatment. All five patients with G-CSF/GM -CSF therapy showed clinical remission. These findings suggest that IBD-lik e colitis is a grave complication of GSD-lb and that recurrent enteric infe ctions due to neutrophil deficiency may contribute to the development of th is bowel disease.