Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count.
Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old girl with GSD type 1b that was dignosed by mutation analysis. The patient was hospitalized with fever, diarrhea, and perioral and anal ulcers. Colonoscopy was performed and IBD-like colitis was diagnosed. The patient had elevated platelet count beyond the age of three months, but IBD-like colitis was diagnosed at three years of age. An elevated platelet count may be a warning sign for the IBD-like colitis in young patients with GSD type 1b.
Saltik-Temizel
Inci Nur
IN
Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Koçak
Nurten
N
Ozen
Hasan
H
Yüce
Aysel
A
Gürakan
Figen
F
Demir
Hülya
H
D002675:Child, Preschool; D003092:Colitis / Q000209:etiology*; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D009503:Neutropenia / Q000209:etiology; D010976:Platelet Count; D014421:Turkey