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Pseudo-osteomyelitis in Gaucher's disease.
K J Paonessa1, V K McInerney, A B Minnefor
1Division of Epidemiology, St. Joseph's Hospital and Medical Center, Paterson, New Jersey.
Orthopaedic Review
|August 1, 1989
Summary
Gaucher disease, a rare lipid storage disorder, can present with bone pain mimicking bone infections. Early diagnosis is crucial to differentiate it from osteomyelitis or pyarthrosis.
Area of Science:
- Biochemistry
- Genetics
- Rheumatology
Background:
- Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase deficiency.
- It leads to the accumulation of glucocerebroside in macrophages, affecting various organs, including bones.
Observation:
- This case report details two instances of Gaucher disease presenting as pseudo-osteomyelitis.
- The patients experienced bone pain that mimicked acute bone infections.
Findings:
- A two-year follow-up confirmed the Gaucher disease diagnosis and ruled out infection.
- The study emphasizes the importance of considering Gaucher disease in the differential diagnosis of bone pain with infectious signs.
Implications:
- Accurate differentiation between Gaucher disease and true bone infections is critical for appropriate patient management.
- Needle biopsy for culture is recommended over open biopsy or drainage when Gaucher disease is suspected to avoid misdiagnosis and delayed treatment.