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

BMC Gastroenterology

Britta Siegmund³  Hans-Jörg Epple³  Ursula Plöckinger²  Moritz von Winterfeld¹  Christoph Treese³  Mani Nassir³  Magdalena Sarah Volz³ 

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

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

Others  :  1211543
DOI  :  10.1186/s12876-015-0271-9

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

【 摘 要 】

Background

Inflammatory 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 presentation

Here 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.

Conclusion

We 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】

   
2015 Volz et al.; licensee BioMed Central.

【 图 表 】

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