Mo Andrew Z, Trenor Cameron C, Hedequist Daniel J
Department of Orthopaedics, Lenox Hill Hospital, New York, NY.
Division of Hematology/Oncology and Vascular Anomalies Center (C.C.T) and Department of Orthopedics (D.J.H.), Boston Children's Hospital, Boston, Massachusetts.
JBJS Case Connect. 2018 Jul-Sep;8(3):e70. doi: 10.2106/JBJS.CC.17.00287.
Gorham-Stout disease (GSD) is a rare entity that is marked by progressive osteolysis and bone resorption. A 14-year-old boy who was being followed for scoliosis presented with a marked curve progression and kyphoscoliosis. Imaging revealed osteolysis of the posterior elements and the ribs, suggestive of GSD. The structural compromise threatened spinal cord compression. Preoperative sirolimus therapy was initiated to stabilize the disease prior to corrective instrumentation. A biopsy specimen that was obtained at the time of instrumentation showed lymphatic vascular spaces consistent with GSD. Sirolimus therapy with the addition of bisphosphonate therapy was continued postoperatively.
To our knowledge, this case report is the first to describe sirolimus therapy combined with surgery for GSD of the spine. The patient did well with consecutive medical optimization and surgical intervention, including postoperative sirolimus and bisphosphonate therapy.
戈勒姆-斯托特病（GSD）是一种罕见的疾病，其特征为进行性骨质溶解和骨吸收。一名因脊柱侧弯接受随访的14岁男孩出现明显的侧弯进展和脊柱后凸侧弯。影像学检查显示后部结构和肋骨骨质溶解，提示为GSD。结构破坏有导致脊髓受压的风险。术前开始使用西罗莫司治疗以在进行矫正器械植入前稳定病情。器械植入时获取的活检标本显示淋巴管腔，符合GSD表现。术后继续使用西罗莫司治疗并加用双膦酸盐治疗。
据我们所知，本病例报告是首例描述西罗莫司治疗联合手术治疗脊柱GSD的报道。通过连续的医学优化和手术干预，包括术后西罗莫司和双膦酸盐治疗，患者情况良好。
