Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt.
Department of Trauma and Orthopaedics, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt.
Semin Musculoskelet Radiol. 2024 Aug;28(4):505-510. doi: 10.1055/s-0044-1782205. Epub 2024 Jul 29.
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.
戈谢病（GD）是一种溶酶体贮积病，其特征是葡萄糖脑苷脂在巨噬细胞（“戈谢细胞”）中贮积，主要在网状内皮系统。GD 型 1（GD1）是最常见的表型，通常表现为肝脾肿大、细胞减少和骨骼受累。骨骼表现是最具致残性的特征，并导致严重的发病率。我们描述了一例 GD1，首先表现为非外伤性骨折。该病例介绍强调了在非外伤性骨折、骨坏死和梗死的鉴别诊断中考虑 GD 的重要性。早期诊断和治疗可改善疾病进程，避免不可逆的后遗症。
