We report a Caucasian female who was diagnosed with glycogen storage disease type Ib (GSD-Ib) at the age of 4 months and whose clinical course was complicated by neutropenia and very frequent episodes of infection, including tonsillopharyngitis. Recurrent group A streptococcal infections resulted in multiple episodes of extremely high serum levels of antibodies to streptolysin O (5,000 IU/ml) and DNAse B (6,000 IU/ ml). At the age of 14 years she presented with carditis, migratory arthritis, fever, elevated erythrocyte sedimentation rate as well as serological evidence for recent streptococcal infection providing a diagnosis of acute rheumatic fever.
the occurrence of these two very rare disorders in our patient may indicate that this association is not coincidental because neutrophil dysfunction in glycogen storage disease type Ib may have predisposed this patient to acute rheumatic fever due to increased susceptibility to group A streptococcal infections. aberrant glycogenolysis and gluconeogenesis, neutropenia and neutrophil dysfunction are regular findings in GSD-Ib. Neutropenia and neutrophil dysfunction in patients with GSD-Ib are due to defects in myeloid maturation, impaired neutrophil motility, defective chemotaxis and phagocytosis and diminished bactericidal activity resulting in recurrent bacterial infections.