以难治性胸腔积液表现的Gorham-Stout病的处理:一例报告和文献回顾

T. Jayakumar, D. Khera, V. Manchanda, K. Rathod
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摘要

Gorham-Stout病(GSD)是一种病因不明的非常罕见的疾病,以淋巴内皮细胞异常增殖为特征,也被称为“消失骨病”、“幻骨病”和“大量骨溶解”,因为骨溶解是一种特征性特征。患者表现为各种症状,如肿胀、疼痛、身体残疾和畸形、呼吸短促和神经系统症状。这是一种进行性疾病,由于其罕见性,研究和治疗选择有限。我们的病人是一名15岁的男性,他表现为腹部和胸部的大肿块,乳糜胸和骨溶解。该患者最初接受胸腔引流、皮下引流和硬化治疗。最终,症状恶化了。经文献检索,诊断为GSD,并开始西罗莫司治疗。西罗莫司治疗2个月后,病变消退并得到良好控制。
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Management of Gorham–Stout disease presenting as intractable pleural effusion in an adolescent: A case report and review of literature
Gorham–Stout disease (GSD) is a very rare disorder of unknown etiology, characterized by the abnormal proliferation of lymphatic endothelial cells, and also called “vanishing bone disease,” “phantom bone disease,” and “massive osteolysis,” as osteolysis is a characteristic feature. Patients present with a variety of symptoms such as swelling, pain, physical disability and deformity, shortness of breath, and neurological symptoms. It is a progressive disease, and owing to its rarity, the research and treatment options are limited. Our patient is a 15-year-old male, who presented with large mass over abdomen and chest, chylothorax, and osteolysis. This patient was initially treated with chest drains, subcutaneous drains, and sclerotherapy. Eventually, symptoms were worsened. After literature search, the patient was diagnosed with GSD, and sirolimus therapy was started. After 2 months of sirolimus therapy, the lesions subsided and well controlled.
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