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Semin Musculoskelet Radiol 2024; 28(04): 505-510
DOI: 10.1055/s-0044-1782205
Review Article

Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review

Rahma Nour Eldin Saad Mohamed
1   Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt
,
Walid A. Elnahal
2   Department of Trauma and Orthopaedics, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt
,
Cleofina Furtado
3   Department of Diagnostic and Interventional Radiology, University Hospitals of North Midlands NHS Trust, Stoke on Trent, United Kingdom
,
Rania Zeitoun 
1   Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt
,
Nagui Abdel-Wahab
1   Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt
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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.

Keywords

Gaucher's disease - bone marrow - nontraumatic fracture


Publication History

Article published online:
29 July 2024

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