Skip to main content
Top
Published in: BMC Gastroenterology 1/2015

Open Access 01-12-2015 | Case report

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

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

Published in: BMC Gastroenterology | Issue 1/2015

Login to get access

Abstract

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.
Literature
1.
go back to reference Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, et al. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Biochem Biophys Res Commun. 1998;248(2):426–31.CrossRefPubMed Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, et al. Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. Biochem Biophys Res Commun. 1998;248(2):426–31.CrossRefPubMed
3.
go back to reference Alsultan A, Sokol RJ, Lovell MA, Thurman G, Ambruso DR. Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. Pediatr Blood Cancer. 2010;55(7):1410–3.CrossRefPubMed Alsultan A, Sokol RJ, Lovell MA, Thurman G, Ambruso DR. Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. Pediatr Blood Cancer. 2010;55(7):1410–3.CrossRefPubMed
4.
go back to reference Melis D, Parenti G, Della Casa R, Sibilio M, Berni Canani R, Terrin G, et al. Crohn’s-like ileo-colitis in patients affected by glycogen storage disease Ib: two years’ follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr. 2003;92(12):1415–21.CrossRefPubMed Melis D, Parenti G, Della Casa R, Sibilio M, Berni Canani R, Terrin G, et al. Crohn’s-like ileo-colitis in patients affected by glycogen storage disease Ib: two years’ follow-up of patients with a wide spectrum of gastrointestinal signs. Acta Paediatr. 2003;92(12):1415–21.CrossRefPubMed
5.
go back to reference Roe TF, Thomas DW, Gilsanz V, Isaacs Jr H, Atkinson JB. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr. 1986;109(1):55–9.CrossRefPubMed Roe TF, Thomas DW, Gilsanz V, Isaacs Jr H, Atkinson JB. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr. 1986;109(1):55–9.CrossRefPubMed
6.
go back to reference Kratzer W, Foeller T, Kaechele V, Reinshagen M, Tirpitz CV, Haenle MM. [Intestinal wall vascularisation in Crohn’s disease]. Z Gastroenterol. 2004;42(9):973–8.CrossRefPubMed Kratzer W, Foeller T, Kaechele V, Reinshagen M, Tirpitz CV, Haenle MM. [Intestinal wall vascularisation in Crohn’s disease]. Z Gastroenterol. 2004;42(9):973–8.CrossRefPubMed
7.
go back to reference Korzenik JR, Dieckgraefe BK, Valentine JF, Hausman DF, Gilbert MJ. Sargramostim for active Crohn’s disease. N Engl J Med. 2005;352(21):2193–201.CrossRefPubMed Korzenik JR, Dieckgraefe BK, Valentine JF, Hausman DF, Gilbert MJ. Sargramostim for active Crohn’s disease. N Engl J Med. 2005;352(21):2193–201.CrossRefPubMed
8.
go back to reference Saltik-Temizel IN, Kocak N, Ozen H, Yuce A, Gurakan F, Demir H. Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. Turk J Pediatr. 2005;47(2):180–2.PubMed Saltik-Temizel IN, Kocak N, Ozen H, Yuce A, Gurakan F, Demir H. Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. Turk J Pediatr. 2005;47(2):180–2.PubMed
9.
go back to reference Wendel U, Bremer HJ, Willberg B. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr. 1987;110(1):166.CrossRefPubMed Wendel U, Bremer HJ, Willberg B. Inflammatory bowel disease in glycogen storage disease type Ib. J Pediatr. 1987;110(1):166.CrossRefPubMed
10.
go back to reference 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. Inflamm Bowel Dis. 2001;7(2):128–32.CrossRefPubMed 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. Inflamm Bowel Dis. 2001;7(2):128–32.CrossRefPubMed
11.
go back to reference Sanderson IR, Bisset WM, Milla PJ, Leonard JV. Chronic inflammatory bowel disease in glycogen storage disease type 1B. J Inherit Metab Dis. 1991;14(5):771–6.CrossRefPubMed Sanderson IR, Bisset WM, Milla PJ, Leonard JV. Chronic inflammatory bowel disease in glycogen storage disease type 1B. J Inherit Metab Dis. 1991;14(5):771–6.CrossRefPubMed
12.
go back to reference de Parscau L, Maire I, Guibaud P, Gonthier R, Dumollard JM, Rousset H. Glycogen storage disease and inflammatory bowel disease. J Pediatr. 1989;115(2):337.CrossRefPubMed de Parscau L, Maire I, Guibaud P, Gonthier R, Dumollard JM, Rousset H. Glycogen storage disease and inflammatory bowel disease. J Pediatr. 1989;115(2):337.CrossRefPubMed
13.
go back to reference Schulman H, Weizman Z, Barki Y, Maor E, Hertzanu Y. Inflammatory bowel disease in glycogen storage disease type 1 B. Pediatr Radiol. 1995;25 Suppl 1:S160–2.PubMed Schulman H, Weizman Z, Barki Y, Maor E, Hertzanu Y. Inflammatory bowel disease in glycogen storage disease type 1 B. Pediatr Radiol. 1995;25 Suppl 1:S160–2.PubMed
14.
go back to reference Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr. 2000;137(2):187–91.CrossRefPubMed Visser G, Rake JP, Fernandes J, Labrune P, Leonard JV, Moses S, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr. 2000;137(2):187–91.CrossRefPubMed
15.
go back to reference Roe TF, Coates TD, Thomas DW, Miller JH, Gilsanz V. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. N Engl J Med. 1992;326(25):1666–9.CrossRefPubMed Roe TF, Coates TD, Thomas DW, Miller JH, Gilsanz V. Brief report: treatment of chronic inflammatory bowel disease in glycogen storage disease type Ib with colony-stimulating factors. N Engl J Med. 1992;326(25):1666–9.CrossRefPubMed
16.
go back to reference Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002;161 Suppl 1:S83–7.CrossRefPubMed Visser G, Rake JP, Labrune P, Leonard JV, Moses S, Ullrich K, et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002;161 Suppl 1:S83–7.CrossRefPubMed
17.
go back to reference Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D. The CARE guidelines: consensus-based clinical case report guideline development. J Clin Epidemiol. 2013;67:46–51.CrossRefPubMed Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D. The CARE guidelines: consensus-based clinical case report guideline development. J Clin Epidemiol. 2013;67:46–51.CrossRefPubMed
Metadata
Title
Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b
Authors
Magdalena Sarah Volz
Mani Nassir
Christoph Treese
Moritz von Winterfeld
Ursula Plöckinger
Hans-Jörg Epple
Britta Siegmund
Publication date
01-12-2015
Publisher
BioMed Central
Published in
BMC Gastroenterology / Issue 1/2015
Electronic ISSN: 1471-230X
DOI
https://doi.org/10.1186/s12876-015-0271-9

Other articles of this Issue 1/2015

BMC Gastroenterology 1/2015 Go to the issue