Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b

BMC Gastroenterology

Case Report

Britta Siegmund¹  Magdalena Sarah Volz¹  Hans-Jörg Epple¹  Mani Nassir¹  Christoph Treese¹  Moritz von Winterfeld²  Ursula Plöckinger³ 

[1] Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité – Universitätsmedizin Berlin, Berlin, Germany;Institute of Pathology, Charité – Universitätsmedizin Berlin, Berlin, Germany;Interdisciplinary Center of Metabolism: Endocrinology, Diabetes and Metabolism, Charité – Universitätsmedizin Berlin, Berlin, Germany;

关键词: Crohn’s disease;    IBD-like disease;    Stenosis;    Glycogenosis;    Glycogen storage disease;    Granulocyte colony stimulating factor;    G-CSF;   

DOI  :  10.1186/s12876-015-0271-9

 received in 2015-01-25, accepted in 2015-03-20,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundInflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children. Signs and symptoms of GSD type Ib are hypoglycemia, pancytopenia and hepatosplenomegaly. Based on few published cases, there is evidence that granulocyte-colony stimulating factor (G-CSF) in patients with glycogenosis–related pancytopenia might ameliorate the IBD-like disease through leukocyte increase.Case presentationHere we firstly describe a case of an adult 33-year-old Caucasian male patient with GSD type Ib accompanied with IBD-like disease with persistent pancytopenia despite moderate-dose G-CSF treatment. Recent vomiting and abdominal discomfort were due to a high-grade stenosis in the transverse colon. A dose increase of the G-CSF successfully normalized his leukocyte count. However, the stenosis worsened and surgical therapy was needed.ConclusionWe suggest that symptomatic patients with GSD type Ib should undergo endoscopic examination in order to detect IBD-like disease and to initiate early treatment.

【 授权许可】

Unknown   
© Volz et al.; licensee BioMed Central. 2015. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.