title: Inflammatory bowel disease (IBD)-like disease in a case of a 33-year old man with glycogenosis 1b.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité - Universitätsmedizin Berlin, Berlin, Germany. magdalena.pruess@charite.de.
authors.forename: Magdalena Sarah
authors.initials: MS
authors.lastname: Volz
authors.affiliation: Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité - Universitätsmedizin Berlin, Berlin, Germany. mani.nassir@charite.de.
authors.forename: Mani
authors.initials: M
authors.lastname: Nassir
authors.affiliation: Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité - Universitätsmedizin Berlin, Berlin, Germany. christoph.treese@charite.de.
authors.forename: Christoph
authors.initials: C
authors.lastname: Treese
authors.affiliation: Institute of Pathology, Charité - Universitätsmedizin Berlin, Berlin, Germany. Moritz.von-Winterfeld@charite.de.
authors.forename: Moritz
authors.initials: M
authors.lastname: von Winterfeld
authors.affiliation: Interdisciplinary Center of Metabolism: Endocrinology, Diabetes and Metabolism, Charité - Universitätsmedizin Berlin, Berlin, Germany. ursula.ploeckinger@charite.de.
authors.forename: Ursula
authors.initials: U
authors.lastname: Plöckinger
authors.affiliation: Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité - Universitätsmedizin Berlin, Berlin, Germany. hans-joerg.epple@charite.de.
authors.forename: Hans-Jörg
authors.initials: HJ
authors.lastname: Epple
authors.affiliation: Department of Medicine I (Gastroenterology, Rheumatology, Infectious Diseases), Charité - Universitätsmedizin Berlin, Berlin, Germany. britta.siegmund@charite.de.
authors.forename: Britta
authors.initials: B
authors.lastname: Siegmund
mesh_terms: D000328:Adult; D044684:Colon, Transverse / Q000473:pathology* / Q000601:surgery; D003108:Colonic Diseases / Q000209:etiology* / Q000601:surgery; D003113:Colonoscopy; D003251:Constriction, Pathologic / Q000209:etiology / Q000601:surgery; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000008:administration & dosage; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000150:complications*; D007958:Leukocyte Count; D008297:Male; D010198:Pancytopenia / Q000188:drug therapy* / Q000209:etiology
chemical_list: D016178:Granulocyte-Macrophage Colony-Stimulating Factor