Long-term Follow-up of Colitis Occurring in a Patient with Glycogen Storage Disease Type Ib, Report of a Case Motohiro Esaki 1 1Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University Keyword: 糖原病 , 大腸炎 , 好中球減少 , G-CSF pp.1190-1196
Published Date 2005/7/25
DOI https://doi.org/10.11477/mf.1403100142
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A 17-year-old boy was referred to our institution because of complaints of fever and watery diarrhea. Through typical clinical findings and defective enzyme activity, at the age of 3 months, he had been diagnosed as having glycogen storage disease type Ib. After the age of 10 years, he had been continuously treated by G-CSF therapy against bacterial infections and severe neutropenia. Under colonoscopy, scattered aphthous ulcers and distorted vascular pattern were observed throughout the colorectum. Radiography demonstrated a lead-pipe phenomenon and a circumferential narrowing in the descending colon. Histological examination of biopsy specimens revealed nonspecific inflammation without granulomata. These findings favored the association of chronic colitis and glycogen storage disease type Ib. During the subsequent follow-up for 6 years under G-CSF therapy, no severe colonic complications, such as strictures and fistulas, have occurred. Based on the favorable clinical course of the case, it was suggested that continuous G-CSF therapy may be the first therapy of choice for chronic inflammatory bowel disease in patients with glycogen storage disease type Ib.

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