5例散发型克雅病临床诊断病例的特征研究

Clinical summary of five sporadic cases of Creutzfeldt-Jakob disease

目的分析5例临床诊断为很可能散发型克雅病(sporadic Creutzfeldt-Jakob disease,sCJD)患者的临床特征,并复习相关文献,为散发型克雅病的早期诊断提供参考。方法回顾性分析2008年1月至2017年4月在江苏省盐城市第三人民医院经临床诊断为很可能的5例sCJD患者的临床症状、脑脊液14-3-3蛋白、脑电图、头颅磁共振成像(magnetic resonance imaging,MRI)的弥散加权成像(diffusion weighted imaging,DWI)。结果 sCJD患者首发症状不固定,以迅速进展性痴呆为主,其他包括视觉障碍、运动系统损害(锥体束、锥体外系、小脑)、肌阵挛、无动性缄默等,脑脊液14-3-3蛋白、脑电图、MRI等检查在病程各个阶段有动态变化。结论 sCJD的早期诊断应重视临床特征,头颅MRI、脑电图及14-3-3蛋白为其主要辅助检查。MRI的DWI高信号能更早于脑电图、14-3-3蛋白异常,动态复查MRI、脑电图、14-3-3蛋白不仅可提高诊断的阳性率,更可以了解病程。

Objective To analyze the clinical features of 5 patients clinically diagnosed as sporadic CreutzfeldtJakob disease（sCJD）. Methods A retrospective analysis was done on 5 clinically diagnosed sCJD patients from January 2008 to April 2017 in the Third People′s Hospital of Yancheng city based on clinical symptoms,cerebrospinal fluid 14-3-3 protein,EEG and DWI of cranial MRI. Results The initial symptoms in sCJD patients could be very different but rapidly progressed to dementia,visual impairment,motor function damage（pyramidal and extrapyramidal,cerebellum）,myoclonus and akinetic mutism,positive detection of cerebrospinal fluid 14-3-3 protein,EEG and MRI examination showed dynamic changes in the duration of each stage.The DWI high signal of MRI can be earlier than changes in electroencephalogram. Conclusions Early diagnosis of sCJD mainly depends on clinical features;cranial MRI,electroencephalogram and 14-3-3 protein are the primary auxiliary examinations.