Gorham-Stout disease successfully treated with sirolimus (rapamycin): a case report and review of the literature
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(2020) 21:577
CASE REPORT
Open Access
Gorham-Stout disease successfully treated with sirolimus (rapamycin): a case report and review of the literature Yu Liang†, Ruicheng Tian†, Jing Wang, Yuhua Shan, Hongxiang Gao, Chenjie Xie, Jingjing Li, Min Xu* and Song Gu*
Abstract Background: 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. Case presentation: 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. Xrays 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. Discussion and conclusion: 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. Keywords: Gorham-Stout disease, Osteolytic lesion, Sirolimus (rapamycin), Treatment
Background Gorham-Stout Syndrome, also known as GSD, results in massive osteolysis and bone loss. The disease was first reported in 1838 [1] but was systematically described in 1955 by Gorham and Stout based on their clinical experience and the literature [2]. To date, about 300 cases have been reported worldwide. Commonly, GSD is defined as progressive bone resorption, which occurs either slowly or * Correspondence: [email protected]; [email protected] † Yu Liang and Ruicheng Tian should be regarded as joint first authors. Department of Surgery, Shanghai Children’s Medical Center, Shanghai Jiaotong University School of Medicine, Dongfang Road No.1678, Pudong District, Shanghai 200127, China
rapidly, in association with proliferation of lymphatics or blood vessels in areas adjacent to the osteolytic bone. The cause of the abnormal proliferation of vascular and lymphatic channels remains unknown, although there are different hypotheses about pathogenesis involving vascular endothelial growth factor or osteoclast hyperactivity. It occurs more often in chil
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