title: Inflammatory bowel disease-like colitis in glycogen storage disease type 1b.
abstract: Chronic inflammatory bowel disease (IBD)-like colitis is occasionally associated with glycogen storage disease-type 1b (GSD-1b). We describe a 17-year old boy with GSD-1b who developed an IBD-like colitis. Roentgenography and colonoscopy showed the lead-pipe appearance of the colon and circumferential ulcers. Histopathologic examination revealed nonspecific inflammation without granulomatous lesions. High-dose granulocyte-colony stimulating factor (G-CSF) and sulfasalazine led to the resolution of the colitis, although neutropenia continued. Besides this case, 10 published cases of GSD-1b and IBD-like colitis were reviewed. All cases had severe neutropenia and/or neutrophil dysfunction. The mean onset of bowel disease was 12.3 years of age. Seven cases required surgical treatment. All five patients with G-CSF/GM-CSF therapy showed clinical remission. These findings suggest that IBD-like colitis is a grave complication of GSD-1b and that recurrent enteric infections due to neutrophil deficiency may contribute to the development of this bowel disease.
authors.affiliation: Department of Pediatric, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Yamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Ihara
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Tsutsumi
authors.forename: A
authors.initials: A
authors.lastname: Nomura
authors.forename: S
authors.initials: S
authors.lastname: Ohga
authors.forename: T
authors.initials: T
authors.lastname: Hara
mesh_terms: D000293:Adolescent; D004392:Dwarfism / Q000150:complications; D019298:Glucose-6-Phosphate; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D007564:Japan; D008297:Male; D009503:Neutropenia / Q000150:complications
chemical_list: D016179:Granulocyte Colony-Stimulating Factor; D019298:Glucose-6-Phosphate