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

Magdalena Sarah Volz,Britta Siegmund,Christoph Treese,Ursula Plöckinger,Hans-Jörg Epple,Moritz von Winterfeld,Mani Nassir

doi:10.1186/s12876-015-0271-9

Magdalena Sarah Volz, Britta Siegmund + Show 5 more

Open Access

https://doi.org/10.1186/s12876-015-0271-9

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Journal: BMC gastroenterology	Publication Date: Apr 8, 2015
Citations: 20	License type: CC BY 4.0

Affiliation: Charité - Universitätsmedizin Berlin

Abstract

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.

Highlights

Inflammatory bowel disease (IBD)-like conditions in glycogen storage disease (GSD) type Ib have been predominantly described in children
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
We describe a case of an IBD-like disease in an adult patient with GSD type Ib

Summary

Conclusion

We suggest that even in adult patients with GSD type Ib abdominal symptoms, normally interpreted as related to hypoglycemia or lactate acidosis, should include the differential diagnosis of an IBD-like disease. BS has made substantial contributions to conception, acquisition of data, interpretation of data, and revising the manuscript critically for important intellectual content. Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr. Yamaguchi T, Ihara K, Matsumoto T, Tsutsumi Y, Nomura A, Ohga S, et al Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. Chronic inflammatory bowel disease in glycogen storage disease type 1B. Glycogen storage disease and inflammatory bowel disease. Inflammatory bowel disease in glycogen storage disease type 1 B. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al Granulocyte colony-stimulating factor in glycogen storage disease type 1b.

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