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Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated

Inci Nur Saltik-Temizel1, Nurten Koçak, Hasan Ozen

  • 1Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

The Turkish Journal of Pediatrics
|August 2, 2005
PubMed

Insights

Glycogen storage disease type 1b (GSD 1b) can cause inflammatory bowel disease (IBD)-like colitis. In young GSD 1b patients, an elevated platelet count may signal the early onset of IBD-like colitis.

Area of Science:

  • Pediatric Gastroenterology
  • Metabolic Disorders
  • Immunology

Background:

  • Glycogen storage disease type 1b (GSD 1b) is a rare metabolic disorder.
  • IBD-like colitis is a recognized complication in GSD 1b patients, typically diagnosed in adolescence.
  • Neutropenia is a common feature in GSD 1b patients with colitis.

Observation:

  • A three-year-old girl with GSD 1b presented with fever, diarrhea, and perioral/anal ulcers.
  • Colonoscopy confirmed IBD-like colitis.
  • This patient exhibited an elevated platelet count, unlike typical GSD 1b colitis cases.

Findings:

  • Mutation analysis confirmed GSD 1b diagnosis.
  • The patient's IBD-like colitis was diagnosed at age three.
  • An elevated platelet count was noted from three months of age.

Implications:

  • Elevated platelet count may serve as an early warning sign for IBD-like colitis in young GSD 1b patients.
  • This finding could lead to earlier diagnosis and intervention for GSD 1b-associated colitis.
  • Highlights the importance of monitoring platelet counts in pediatric GSD 1b cases.

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