散发型克雅病4例的临床、脑电图及影像学分析

Study on clinical feature, electroencephalography and MRI in four cases of sporadic Creutzfeldt-Jakob disease

目的:探讨散发型克雅病(sCJD)的临床、脑电图(EEG)及影像学特点。方法:回顾性分析4例sCJD患者的临床表现、EEG、影像学特点。结果:4例患者均有认知功能障碍,其中2例伴有锥体束损害,2例伴有锥体外系损害,1例伴有典型肌阵挛及癫痫发作。3例行脑脊液14-3-3蛋白检测均为阳性。EEG检查均有弥漫性异常,其中1例行动态脑电图(A-EEG)检查示典型的周期性三相波发放。3例头颅MRI检查,T2加权序列(T2WI)、液体衰减反转恢复序列(FLAIR)及弥散加权成像(DWI)在皮质、基底节区等发现异常高信号。结论:临床上对迅速进展型痴呆,并伴多系统受累等症状的疑似CJD患者,尽早行EEG、头颅MRI以及脑脊液14-3-3蛋白的检测有助于临床早期诊断。

Objective To investigate the clinical feature, electroencephalography （EEG） and MRI of sporadic Creutzfeldt-Jakob disease （sCJD）. Methods The clinical feature, EEG and MRI of 4 cases of sCJD were analyzed retrospectively. Results （1） All the four cases had cognitive disturbance, 2 cases showed pyramidal sign and 2 cases had extrapyramidal sign, and 1 case had typical myoclonus and epileptic attack. （2） Detection of 14-3-3 protein in cerebrospinal fluid was performed in 3 cases and all were positive. （3） EEG showed diffuse abnormality,and the 24 h. EEG （A-EEG） performed in 1 case showed typical periodic triphasic wave. （4） Head magnetic resonance imaging （MRI） was performed in 3 cases and showed abnormal hyperintense signals in cerebral cortex and basal ganglia on T2-weighted image （T2WI）, fluid-attenuated inversion recovery image （FLAIR） and diffusion-weighted image （DWI）. Conclusions In patients with rapid progressive demantia accompanied by multi-system involvement, detection of 14-3-3 protein, EEG and head MRI are the three important methods for helping the early diagnosis of CJD in suspected cases.