Gorham—Stout综合征五例临床分析并文献复习

Clinical features of Gorham-Stout syndrome and literature review

目的探讨Gorham-Stout综合征（GSS）患者的临床、骨影像及组织病理特点及其诊断、治疗和预后。方法回顾性分析1980年1月至2008年1月北京协和医院收治的5例GSS患者的临床资料并进行文献复习。结果（1）5例患者中男2例，女3例；年龄15～37岁，平均30．2岁。（2）5例患者均有不同部位、不同程度的骨破坏，3例合并大量胸腔积液，均为血性渗出液；其中2例为乳糜性胸腔积液。所有患者均无恶性肿瘤的依据。4例接受骨组织活检，其中2例接受局部穿刺及切开活检，有典型的骨病理表现。（3）采用二膦酸盐、钙剂＋活性维生素D3、病变部位的放疗、胸导管结扎等治疗方法。（4）转归：5例患者中，仅有骨病变的2例病情平稳，合并胸腔积液的3例患者中，1例骨病变相对稳定，但需间断放胸腔积液，2例失访。结论GSS是一以渐进性溶骨性改变为主要表现的罕见病，临床表现取决于受累部位。目前没有确切的治疗方法；合并胸腔积液时预后差。

Objective To describe the clinical presentations, radiographic findings and histological pathology of bones, diagnosis, treatment options and prognosis for patients with Gorham-Stout syndrome （GSS）. Methods Clinical data of 5 GSS patients seen from January 1980 to January 2008 were reviewed. Results （ 1 ） There were 2 males and 3 females, aged 15 years to 37 years （ mean age was 30.2 years ）. （2） All of them had osteolysis, but the site and extent of involved bones were not the same. Three cases had large amount of bloody pleural effusion and two of them had also chylous effusion. All of the 5 cases had no evidence of malignancies. Four cases accepted bone biopsy. Among them,2 cases having local puncture and open biopsy showed typical bone pathologic manifestations. （3） Various forms of treatment including bisphosphonates, calcium supplementation, active vitD3 treatment, local radiation therapy and surgical ligation of thoracic duct were tried. （4） Follow up and clinical outcomes： the two cases, who had only bone osteolysis remained stable. Of the other three cases who had bone osteolysis associated with pleura[ effusion, one patient needed interrupted effusion drainage with stable bone impairment and the other two cases were out of contact. Conclusions GSS is a rare disorder characterized by progressive osteolysis. The clinical presentations of this disease are variable and depend on the sites of involvement. There were no standard therapy available. Prognosis depends on the site of involvement, extent of the disease and presence of complications. Those who have plueral effusion had poor prognosis.