Inflammatory bowel disease-like colitis in glycogen storage disease type 1b

Inflamm Bowel Dis. 2001 May;7(2):128-32. doi: 10.1097/00054725-200105000-00008.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adolescent
  • Dwarfism / complications
  • Glucose-6-Phosphate
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / drug therapy
  • Glycogen Storage Disease Type I / genetics
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Humans
  • Inflammatory Bowel Diseases / complications*
  • Inflammatory Bowel Diseases / drug therapy
  • Inflammatory Bowel Diseases / genetics
  • Japan
  • Male
  • Neutropenia / complications


  • Granulocyte Colony-Stimulating Factor
  • Glucose-6-Phosphate