title: Inflammatory bowel disease in glycogen storage disease type Ib.
abstract: We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with glycogen storage disease type Ib (GSD-Ib). A chance association of these diseases in two patients is unlikely. Studies of their neutrophils showed severe chronic neutropenia (mean absolute granulocyte counts of less than 500 cells/microliter) and markedly deficient chemotactic response (less than 5% of reference values) in the patients with GSD-Ib and normal neutrophil values in four patients with glycogen storage disease type Ia (GSD-Ia). Monocyte counts and responses to chemotactic stimulation were normal in both GSD-Ia and GSD-Ib. Chronic inflammatory bowel disease appears to be associated with GSD-Ib, and neutrophil abnormalities may be involved in the pathogenesis of the bowel inflammation.
authors.forename: T F
authors.initials: TF
authors.lastname: Roe
authors.forename: D W
authors.initials: DW
authors.lastname: Thomas
authors.forename: V
authors.initials: V
authors.lastname: Gilsanz
authors.forename: H
authors.initials: H
authors.lastname: Isaacs
authors.forename: J B
authors.initials: JB
authors.lastname: Atkinson
mesh_terms: D000293:Adolescent; D000328:Adult; D002634:Chemotaxis, Leukocyte; D002648:Child; D002675:Child, Preschool; D003424:Crohn Disease / Q000150:complications* / Q000276:immunology / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000276:immunology / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007958:Leukocyte Count; D009000:Monocytes / Q000502:physiology; D009504:Neutrophils / Q000502:physiology