{"title":"Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review.","authors":"Rahma Nour Eldin Saad Mohamed, Walid A Elnahal, Cleofina Furtado, Rania Zeitoun, Nagui Abdel-Wahab","doi":"10.1055/s-0044-1782205","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":49545,"journal":{"name":"Seminars in Musculoskeletal Radiology","volume":"28 4","pages":"505-510"},"PeriodicalIF":0.9000,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Seminars in Musculoskeletal Radiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1055/s-0044-1782205","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/29 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
Seminars in Musculoskeletal Radiology is a review journal that is devoted to musculoskeletal and associated imaging techniques. The journal''s topical issues encompass a broad spectrum of radiological imaging including body MRI imaging, cross sectional radiology, ultrasound and biomechanics. The journal also covers advanced imaging techniques of metabolic bone disease and other areas like the foot and ankle, wrist, spine and other extremities.
The journal''s content is suitable for both the practicing radiologist as well as residents in training.
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