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

被引：0

作者：

Mohamed, Rahma Nour Eldin Saad ^{[1
]}

Elnahal, Walid A. ^{[2
]}

Furtado, Cleofina ^{[3
]}

Zeitoun, Rania ^{[1
]}

Abdel-Wahab, Nagui ^{[1
]}

机构：

[1] Cairo Univ, Kasr Al Ainy Fac Med, Dept Diagnost & Intervent Radiol, Cairo 4240310, Egypt

[2] Cairo Univ, Kasr Al Ainy Fac Med, Dept Trauma & Orthopaed, Cairo, Egypt

[3] Univ Hosp North Midlands NHS Trust, Dept Diagnost & Intervent Radiol, Stoke On Trent, England

来源：

SEMINARS IN MUSCULOSKELETAL RADIOLOGY | 2024年 / 28卷 / 04期

关键词：

Gaucher's disease; bone marrow; nontraumatic fracture;

D O I：

10.1055/s-0044-1782205

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

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.

引用

页码：505 / 510

页数：6

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