血清NMDAR抗体阳性的散发性克雅病(附1例报告及文献复习)  

Sporadic Creutzfeldt Jakob Disease with Positive Serum NMDAR Antibody:A Case Report and Literature Review

作　　者：孟祺 王靖国 王鹏宇 邓波 刘小妮 陈向军 黄月[3] 俞海 MENG Qi;WANG Jing-guo;WANG Peng-yu;DENG Bo;LIU Xiao-ni;CHEN Xiang-jun;HUANG Yue;YU Hai(Department of Neurology,Huashan Hospital,Fudan University and Insitute of Neurology,Fudan University,Shanghai 200040,China;National Center for Neurological Disorders,Shanghai 200040,China;Department of Neurology,Henan Provincial People’s Hospital,Zhengzhou 450000,China)

机构地区：[1]复旦大学附属华山医院神经科、复旦大学神经病学研究所,上海200040 [2]国家神经疾病医学中心,上海200040 [3]河南省人民医院神经内科,郑州450000

出　　处：《中国临床神经科学》2023年第1期81-88,共8页Chinese Journal of Clinical Neurosciences

基　　金：上海申康医院发展中心临床三年行动计划资助(编号:SHDC2020CR2027B);上海市卫生健康委员会,2020年中央转移支付医疗卫生机构能力建设项目(国家和省级重大疾病多科学合作诊疗能力建设项目)。

摘　　要：目的提高和拓展对散发型克雅病和自身免疫性脑病的认识。方法报道1例血清NMDAR抗体阳性的散发性克雅病患者的临床资料,总结诊断、治疗经过等临床特点,结合文献复习进行分析和讨论。结果患者女性,56岁。亚急性起病,表现为精神异常伴快速进展性认知损害,血清NMDAR抗体阳性,予以免疫治疗(丙种球蛋白及糖皮质激素)效果差,病情进行性进展,逐渐出现无动性缄默、肌张力增高、肌阵挛等表现,脑电图检查显示典型三相波,MRI检查显示皮质花边征及尾状核、豆状核异常信号,18F-FDGPET-CT检查显示全脑弥漫性代谢减低。根据最新散发型克雅病诊断标准,诊断为临床很可能的散发型克雅病。结论克雅病患者可以合并神经自身抗体阳性,神经抗体阳性不一定具有致病性。Aim To improve and expand the understanding of sporadic Creutzfeldt-Jakob disease and autoimmune encephalopathy.Methods The clinical data of a sporadic Creutzfeldt-Jakob disease patient with positive NMDAR antibody was reported.The clinical characteristics of diagnosis and treatment were analyzed and discussed combined with the literature.Results A 56-year-old female patient with subacute onset,manifested as psychosis with rapidly progressive cognitive decline,positive blood NMDAR antibody,poor effect of administration of immunization therapy(gamma globulin and glucocorticoid),progressive disease progression with gradual appearing Akinetic mutism/increased muscle tone/myoclonus,typical three-phase waves on EEG,cortical lace sign and caudate/lenticular nucleus abnormal signal on magnetic resonance,18F-FDG PET-CT showed diffuse decrease of brain metabolism,according to the latest sCJD diagnostic criteria,the patient was diagnosed as clinically probable sporadic Creutzfeldt-Jakob disease.Conclusion Patients with Creutzfeldt-Jakob disease can be overlapped with positive neural autoantibodies,and positive neural antibodies are not necessarily pathogenic.

关 键 词：快速进展性痴呆 克雅病 散发型 自身免疫性脑病 NMDAR抗体 

分 类 号：R742[医药卫生—神经病学与精神病学]