2024
DOI: 10.1055/s-0044-1782205
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Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review

Rahma Nour Eldin Saad Mohamed,
Walid A. Elnahal,
Cleofina Furtado
et al.

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 highli… Show more

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