Liang Yu, Tian Ruicheng, Wang Jing, Shan Yuhua, Gao Hongxiang, Xie Chenjie, Li Jingjing, Xu Min, Gu Song
Department of Surgery, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Dongfang Road No.1678, Pudong District, Shanghai, 200127, China.
BMC Musculoskelet Disord. 2020 Aug 25;21(1):577. doi: 10.1186/s12891-020-03540-7.
Gorham-Stout disease (GSD) is a rare disease characterized by bone lesions and osteolysis. Therapy usually involves surgical resection. Sirolimus (Rapamycin) is used in some patients with GSD but the efficacy and safety of Sirolimus remains unclear. We propose that Sirolimus may be a novel therapeutic for GSD and present a case and review of literature that supports this.
We presented a 1-year-old boy with GSD involving osteolysis of the right humerus with fracture of the left femur complicated by an effusion in the right pleural cavity. X-rays showed osteolysis in the right clavicle. A large pleural effusion was observed on the right-side, and the left lung was significantly compressed. X-rays also showed a fracture of the left femur. A femoral biopsy was performed that showed necrotic tissue in the cortical bone and a large number of irregularly shaped capillaries that proliferated within the necrotic tissue. Dilated lymphatic vessels were seen adjacent to the cortex, with fibrous tissue hyperplasia. We prescribed sirolimus, which is an oral mTOR inhibitor, for two consecutive years. The boy recovered well without other progressive bone lesions and participates in normal daily activities. His growth and development are the same as that of his peers.
Gorham-Stout disease is a rare and enigmatic disease characterized by the presentation of an intraosseous lymphatic anomaly (LM), which results in progressive bone resorption. Based on this case report and a literature review, we conclude that sirolimus may be an effective alternative medication for GSD.
戈勒姆-斯托特病（GSD）是一种罕见疾病，其特征为骨病变和骨质溶解。治疗通常包括手术切除。西罗莫司（雷帕霉素）用于部分GSD患者，但西罗莫司的疗效和安全性仍不明确。我们提出西罗莫司可能是GSD的一种新型治疗方法，并呈现一个病例及文献综述来支持这一观点。
我们报告了一名1岁男孩，患有GSD，表现为右肱骨骨质溶解，左股骨骨折，并伴有右侧胸腔积液。X线显示右锁骨骨质溶解。右侧观察到大量胸腔积液，左肺明显受压。X线还显示左股骨骨折。进行了股骨活检，结果显示皮质骨中有坏死组织，坏死组织内有大量不规则形状的毛细血管增生。在皮质附近可见扩张的淋巴管，伴有纤维组织增生。我们连续两年给该男孩服用西罗莫司，这是一种口服的雷帕霉素靶蛋白（mTOR）抑制剂。男孩恢复良好，没有出现其他进行性骨病变，并能参与正常的日常活动。他的生长发育与同龄人相同。
戈勒姆-斯托特病是一种罕见且神秘的疾病，其特征为骨内淋巴管异常（LM），导致进行性骨吸收。基于本病例报告和文献综述，我们得出结论，西罗莫司可能是GSD的一种有效替代药物。
