戈谢病的骨骼表现：病例报告与文献综述

IF 0.9 4区医学 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING

Seminars in Musculoskeletal Radiology Pub Date : 2024-08-01 Epub Date: 2024-07-29 DOI:10.1055/s-0044-1782205

Rahma Nour Eldin Saad Mohamed, Walid A Elnahal, Cleofina Furtado, Rania Zeitoun, Nagui Abdel-Wahab

{"title":"戈谢病的骨骼表现：病例报告与文献综述","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":"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.","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":"{\"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\":\"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.\",\"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}","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

摘要

戈谢病（GD）是一种溶酶体贮积症，其特征是葡萄糖醛酸酰胺贮存在巨噬细胞（"戈谢细胞"）中，主要存在于网状内皮系统中。GD 1 型（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。骨骼表现是最令人衰弱的特征，会导致严重的发病。我们描述了一例 GD1 病例，该病例首先表现为非创伤性骨折。该病例突出表明，在非创伤性骨折、血管性坏死和骨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病程，避免不可逆转的后遗症。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

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

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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Seminars in Musculoskeletal Radiology 医学-核医学

CiteScore

2.50

自引率

7.10%

发文量

112

审稿时长

>12 weeks

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.