Gorham-Stout综合征的多学科诊疗一例

A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout Disease

  • 摘要: Gorham-Stout综合征(Gorham-Stout disease, GSD)是一种罕见的溶骨性疾病,主要表现为自发性、渐进性骨溶解,伴血管/淋巴管异常增生,无新骨形成。本文报道1例15岁女性,因“反复右腿痛5年,右股骨骨折术后11个月”入院。通过整合患者临床表型、实验室检查、影像学、病理学和分子生物学检测结果,最终考虑为GSD可能性大。经过罕见病多学科会诊,制定了包括唑来膦酸联合西罗莫司抑制骨溶解的治疗方案,并结合康复训练及骨科等多学科干预,为患者提供了个性化的综合治疗策略。

     

    Abstract: Gorham-Stout disease(GSD) is a rare osteolytic disorder characterized by spontaneous and progressive osteolysis, along with abnormal angiogenesis and lymphangiogenesis, with no new bone formation. We present a case of a 15-year-old female admitted due to " recurrent right leg pain for 5 years, 11 months after undergoing right femoral fracture surgery". Through comprehensive integration of the patient's clinical phenotype, laboratory tests, imaging findings, pathological examinations, and molecular biological test results, GSD was considered highly likely. A multidisciplinary treatment approach was conducted, including a combination of zoledronic acid and sirolimus to inhibit osteolysis, along with rehabilitation training and orthopedic intervention, providing a personalized and comprehensive treatment strategy.

     

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