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Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous

Jennifer Ndagijimana1, Tim Niehues, Udo Wendel

  • 1Department of Paediatrics, University Children's Hospital Düsseldorf, Germany.

European Journal of Pediatrics
|May 10, 2002
PubMed

Insights

Glycogen storage disease type Ib (GSD-Ib) in a young patient led to recurrent infections and acute rheumatic fever. Neutrophil dysfunction in GSD-Ib may increase susceptibility to streptococcal infections, potentially linking these rare conditions.

Area of Science:

  • Pediatrics
  • Immunology
  • Metabolic Disorders

Background:

  • Glycogen storage disease type Ib (GSD-Ib) is a rare inherited metabolic disorder.
  • GSD-Ib is characterized by neutropenia and impaired neutrophil function, leading to recurrent infections.

Observation:

  • A Caucasian female diagnosed with GSD-Ib at 4 months experienced frequent infections, including tonsillopharyngitis.
  • Recurrent group A streptococcal infections caused extremely high antibody levels (streptolysin O and DNAse B).
  • At 14 years, she developed carditis, migratory arthritis, and fever, with serological evidence of recent streptococcal infection, diagnosing acute rheumatic fever.

Findings:

  • The patient presented with a rare combination of GSD-Ib and acute rheumatic fever.
  • Neutrophil dysfunction in GSD-Ib, including impaired chemotaxis and phagocytosis, contributes to increased susceptibility to bacterial infections.
  • Aberrant glycogenolysis and gluconeogenesis are characteristic of GSD-Ib.

Implications:

  • The co-occurrence suggests a potential link between GSD-Ib and acute rheumatic fever.
  • Neutrophil dysfunction in GSD-Ib may predispose patients to group A streptococcal infections, increasing the risk of rheumatic fever.
  • This case highlights the complex interplay between metabolic disorders, immune dysfunction, and infectious complications.
Abstract

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