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Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review
Rahma Nour Eldin Saad Mohamed1, Walid A Elnahal2, Cleofina Furtado3
1Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt.
Abstract:
Gaucher's disease (GD) is a lysosomal storage disorder characterized by the storage of glucosylceramide in macrophages ("Gaucher cells"), mainly in the reticuloendothelial system. GD type 1 (GD1) is the most common phenotype that usually manifests with hepatosplenomegaly, cytopenias, and bone involvement. Skeletal manifestations are the most debilitating characteristic and result in significant morbidities. We describe a case of GD1, first presented by a nontraumatic bone fracture. The case presentation highlights the importance of considering GD among the differential diagnosis of nontraumatic fractures, avascular necrosis, and infarcts of the bones. Early diagnosis and treatment improve the course of disease and avoid irreversible sequelae.
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