{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T18:54:58Z","timestamp":1778266498050,"version":"3.51.4"},"reference-count":20,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Semin Musculoskelet Radiol"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gaucher's disease (GD) is a lysosomal storage disorder characterized by the storage of glucosylceramide in macrophages (\u201cGaucher cells\u201d), 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.<\/jats:p>","DOI":"10.1055\/s-0044-1782205","type":"journal-article","created":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T23:03:20Z","timestamp":1722294200000},"page":"505-510","source":"Crossref","is-referenced-by-count":1,"title":["Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review"],"prefix":"10.1055","volume":"28","author":[{"given":"Rahma Nour Eldin Saad","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walid A.","family":"Elnahal","sequence":"additional","affiliation":[{"name":"Department of Trauma and Orthopaedics, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cleofina","family":"Furtado","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, University Hospitals of North Midlands NHS Trust, Stoke on Trent, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4425-768X","authenticated-orcid":false,"given":"Rania","family":"Zeitoun","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagui","family":"Abdel-Wahab","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, Kasr Al-Ainy Faculty of Medicine, Cairo University, Cairo, 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