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

Jing HU; Ying JIN; Yan ZHANG; Ji LI; Wenhui WANG; Yue CHI; Chunxu LI; Zhenjie ZHANG; Yaping LIU; Xiaotian CHU; Jin XU; Min SHEN

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

Jing HU ¹ ; Ying JIN ² ; Yan ZHANG ³ ; Ji LI ⁴ ; Wenhui WANG ⁵ ; Yue CHI ⁶ ; Chunxu LI ⁷ ; Zhenjie ZHANG ⁸ ; Yaping LIU ⁹ ; Xiaotian CHU ¹⁰ ; Jin XU ¹ ; Min SHEN ¹

Affiliations

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1. Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

2. Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;National Clinical Research Center of Kidney Diseases, Jinling Clinical Medical College of Nanjing Medical University, Nanjing 210002, China;.

3. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

4. Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

5. Department of Radiotherapy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

6. Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

7. Department of Orthopedics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

8. Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

9. Clinical Genetics Group, Medical Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

10. Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Department of Rehabilitation Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.

Keywords

Gorham-Stout disease; osteolysis; multidisciplinary treatment

Country

China

Language

Chinese

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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