摘要目的 分析Erdheim-Chester病的临床表现及病理特点,提高对该病的认识.方法 报道1例青年男性Erdheim-Chester病患者的临床特点及诊疗经过,并进行分析讨论.结果 青年男性,9个月前无明显诱因出现双眼球突出,右眼视物不清,小便量多,约4 000～5 000 ml/d,查体发现血压升高,2个月前出现腰背痛.胸椎磁共振示T2-7水平椎管内多发结节影;颅脑磁共振示双侧球后肌锥内、鞍内及双侧海绵窦、双侧上颌窦底部多发异常信号影.眼眶活组织检查病理示(眶内肿物)增生的纤维结缔组织及脂肪组织内见淋巴细胞、浆细胞、嗜酸性粒细胞、泡沫细胞、梭形细胞、多核巨细胞浸润伴脂肪坏死;免疫组织化学示浸润淋巴细胞CD68(+)、CD20(+)、CD3(+)、LCA(+)、CD1a(-)、S-100蛋白(-)、Langerin(-).给予甲泼尼龙、干扰素治疗,症状缓解.结论 认识Erdheim-Chester病的疾病特征有助于临床正确诊断及治疗.

abstractsObjective By analyzing the clinical manifestations and pathologic features of Erdheim-Chester's disease (ECD) to improve the recognition of the disease.Methods The clinical characteristics,diagnosis and treatment of a young male with ECD were reported and the related literature was reviewed.Results A previously healthy young male patient with bilateral exophthalmos,blurred vision of right eye,polyuria and hypertension without obvious causes for nine months were admitted into our hospital.He developed low back pain two months ago.Thoracic vertebra Magnetic resonance imaging (MRI) showed multiple nodules extending from the 2th-7th thoracic vertebrae intra-medullary.MRI of the brain showed multiple masseswith abnormal intensities within the retro-ocular intraconal muscle cone,sellar and cavernous sinus,maxillary sinus.Biopsy specimens from the right orbital lesion demonstrated proliferation of fibrous connective tissue and fat tissue infiltrating with lymphocytes,plasma cells,eosinophils,foam cells,spindle cells,and multinucleated giant cells accompanied by fat necrosis.Immunohistochemistry showed infiltrated lymphocytes stained positive for CD68,CD20,CD3,LCA and negative for CD1a,S-100 protein and langerin.The clinical symptoms of exophthalmos and low back pain relieved after treated with methylprednisolone and interferon-α.Conclusion Understanding the characteristics of ECD can help to make the correct diagnosis and treatment.