HU Jing, JIN Ying, ZHANG Yan, LI Ji, WANG Wenhui, CHI Yue, LI Chunxu, ZHANG Zhenjie, LIU Yaping, CHU Xiaotian, XU Jin, SHEN Min. A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout DiseaseJ. Journal of Rare Diseases, 2026, 5(1): 52-59. DOI: 10.12376/j.issn.2097-0501.2026.01.008
Citation: HU Jing, JIN Ying, ZHANG Yan, LI Ji, WANG Wenhui, CHI Yue, LI Chunxu, ZHANG Zhenjie, LIU Yaping, CHU Xiaotian, XU Jin, SHEN Min. A Case of Multidisciplinary Treatment for a Patient with Gorham-Stout DiseaseJ. Journal of Rare Diseases, 2026, 5(1): 52-59. DOI: 10.12376/j.issn.2097-0501.2026.01.008

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

  • 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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