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[Recurrent coxopathy, isolated manifestation of Gaucher's disease]
D Graber1, V Flurin-Chollet, J Boulot
1Service de Médecine Infantile A, CHU Purpan, Toulouse.
Archives Francaises De Pediatrie
|December 1, 1991
Insights
Gaucher
Area of Science:
- Pediatric Rheumatology
- Medical Genetics
- Skeletal Radiology
Background:
- Gaucher disease is a rare lysosomal storage disorder.
- It typically presents with hepatosplenomegaly and skeletal abnormalities.
- Early diagnosis is crucial for effective management.
Observation:
- A 12-year-old girl presented with recurrent hip arthritis.
- No splenomegaly was detected.
- Articular fluid analysis revealed inflammatory or hemorrhagic characteristics.
Findings:
- Early decreased uptake on bone scintigraphy indicated Gaucher disease.
- Magnetic resonance imaging (MRI) effectively evaluated bone involvement.
- This case highlights atypical presentation without splenomegaly.
Implications:
- Emphasizes the importance of considering Gaucher disease in pediatric arthritis.
- Highlights the diagnostic utility of bone scintigraphy and MRI.
- Suggests that skeletal manifestations can precede or occur without organomegaly.
Abstract:
A case of Gaucher's disease is reported in a 12 year-old girl. Presenting signs consisted of relapsing hip arthritis, while no splenomegaly was detectable. The authors comment the inflammatory or moderately hemorrhagic nature of articular fluid and the diagnostic value of an early decreased uptake on bone scintiscan. The value of magnetic resonance imaging for evaluating bone involvement is emphasized.