Jiao Yang, Sun Heng, Huang Yizhen, Zhao Junduo, Huang Xu'an, Cai Haoyu, Shen Jianxiong
Department of Surgery, Department of Breast Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China.
Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, People's Republic of China.
BMC Musculoskelet Disord. 2024 Dec 26;25(1):1068. doi: 10.1186/s12891-024-08217-z.
Gorham-Stout disease (GSD) is a rare disease characterized by osteolysis and lymphatic malformations. GSD involving the spine is exceptionally rare and lacks a standard cure. The aim of this article was to report a case of GSD with scoliosis treated via corrective surgery and medication. Clinical features, imaging data, treatment, and published GSD cases are discussed.
: We report the case of a 14-year-old male with GSD (confirmed by pathology and genetic analysis of bone tissue due to a previous fracture), which mainly involved the spine and caused progressive scoliosis. Scoliosis was defined as a right upper thoracic curve with a Cobb angle of 61° and a left major thoracic curve with a Cobb angle of 50°. Preoperative magnetic resonance imaging of the spine in the T2-weighted phase showed wedge-shaped changes in T4-9, with substantial high signal and no intradiscal abnormalities. The patient successfully underwent scoliosis correction from T2-L2. After surgery, the patient was treated with sirolimus for osteoporosis, and the effect of the scoliosis correction remained stable after 2 years of follow-up. This case documented the rare phenomenon of spinal lamina chylous leakage caused by GSD. Corrective surgery combined with sirolimus achieved good results in the treatment of scoliosis caused by GSD.
This study provides an important reference for the diagnosis and treatment of GSD involved with spine.
戈勒姆-斯托特病（GSD）是一种罕见疾病，其特征为骨质溶解和淋巴管畸形。累及脊柱的GSD极为罕见，且缺乏标准的治疗方法。本文旨在报告一例通过矫正手术和药物治疗的伴有脊柱侧弯的GSD病例。文中讨论了临床特征、影像学数据、治疗方法以及已发表的GSD病例。
我们报告一例14岁男性GSD患者（因既往骨折经骨组织病理及基因分析确诊），该病主要累及脊柱并导致进行性脊柱侧弯。脊柱侧弯定义为右上胸弯，Cobb角为61°，左主胸弯，Cobb角为50°。术前脊柱T2加权相磁共振成像显示T4-9呈楔形改变，有大量高信号，椎间盘内无异常。患者成功接受了T2-L2节段的脊柱侧弯矫正手术。术后，患者接受西罗莫司治疗骨质疏松，随访2年脊柱侧弯矫正效果保持稳定。该病例记录了GSD导致的罕见的椎板乳糜漏现象。矫正手术联合西罗莫司治疗GSD所致脊柱侧弯取得了良好效果。
本研究为累及脊柱的GSD的诊断和治疗提供了重要参考。
