散发型克雅病7例患者的临床、脑电图及影像学分析

The study on clinical feature,electroencephalography and MRI in seven cases of sporadic Creutzfeldt-Jakob disease

目的探讨散发型克雅病(s CJD)的临床、脑电图及影像学特点。方法回顾性分析7例散发型克雅病患者的临床表现、脑电图、影像学特点。结果本组亚急性起病5例,慢性起病2例,主要的临床症状和体征有进行性痴呆、精神行为异常、视觉障碍、头晕、共济失调、肌阵挛、言语笨拙、锥体外系症状和锥体束征等;EEG检查均有异常,其中6例脑电图检查示典型的周期性三相波发放,1例患者入院脑电图检查未见异常波发放,1月后复查脑电图发现周期性三相波;7例均行颅脑MRI检查,T2加权序列(T2WI)、液体衰减反转恢复序列(T2FLAIR)及弥散加权成像(DWI)在皮质、尾状核、壳核等发现异常高信号,其中1例在DWI像上发现随着疾病进展尾状核、壳核、皮层信号先明显增高,后稍微下降;6例行脑脊液14-3-3蛋白检测,其中4例为阳性,2例为阴性。结论临床上对快速进展型痴呆的患者,应考虑克雅病的可能,尽早行脑电图、颅脑MRI以及脑脊液14-3-3蛋白检测有助于临床早期诊断;脑电图、颅脑MRI在疾病早期可无典型改变,则应短期内复查,动态观察。

Objective To investigate the clinical feature, electroencephalography （EEG） and MRI of sporadic Creutzfeldt-Jakob disease （sCJD）.Methods The clinical feature, EEG and MRI of 7cases of sCJD were analyzed retrospectively.Results 5 cases were subacute onset, 2 cases were chronic onset. The major clinical symptoms and signs were progressive dementia, mental and behavior disorder, visual abnormalities, dizziness, ataxia, myoclonus, speech clumsy, extrapyramidal symptoms and pyramidal sign etc. The EEG results were all abnormal, and 6 cases showed typical periodic triphasic wave. One patient showed no abnormal waves when admitted to hospital, but showed periodic triphasic wave on reexamination of EEG one month later. Head magnetic resonance imaging （MRI） was performed in all cases and showed hyperintense signals in cerebral cortex, caudate nucleus and putamen on T2-weighted image （T2WI）, T2 fluid-attenuated inversion recovery image （T2 FLAIR） and diffusion-weighted image （DWI）. One patient showed the hyperintense signals in cerebral cortex, caudate nucleus and putamen enhanced first and then attenuated with the progression of the disease. Detection of 14-3-3 protein in cerebrospinal fluid was performed in 6 cases and 4 cases showed positive results.Conclusion Patients with rapidly progressive dementia should be taken into consideration of CJD. Examination with EEG, head MRI and detection of 14-3-3 protein are helpful for establishing the early diagnosis in suspected cases. Sometimes no typical findings of CJD were found on EEG and head MRI in early stage, reexamination of EEG and MRI should be performed in a short time.