广州市6例克雅氏病病例特征分析

Clinical characteristics of 6 Creutzfeldt-Jakob disease cases reported in Guangzhou city

目的探讨克雅氏病(CJD)的临床表现,提高对该病的诊治能力。方法收集广州市报告的CJD患者共6例,均行磁共振成像(MRI)和脑电图检查,14-3-3蛋白及PRNP基因检测。结果多为急性亚急性起病,首发症状以进行性痴呆(2例)和椎体外系症状(2例)为主。病例均无痴呆类疾病家族史和手术、脑垂体生长激素使用史。MRI检查显示,无特异性异常信号。脑电图检查结果,均出现弥漫性慢波,4例出现特征性的周期性三相波。3例14-3-3蛋白阳性,而PRNP基因序列分析均为无突变型。1例进行脑组织活检,蛋白酶K抗性朊蛋白(PK抗性PrP)阳性。结论 CJD早期临床表现不典型,脑脊液14-3-3蛋白检测和持续动态的脑电图检查可能是CJD早期诊断的特异性方法。

Objective To investigate the clinical characteristics of Creutzfeldt-Jakob disease （CJD）, and enhance the diagnosis and therapeutic effect. Method A retrospective analysis study was conducted to investigate the clinical characteristics of the 6 CJD cases reported in Guangzhou. Results Most of the cases are of acute and subacute onset. The first symptom of CJD is rapidly progressive dementia（2 cases） and extrapyramidal system disorder （2 cases）. There were no family history of dementia among these cases, and there were no surgery and pituitary growth hormone use history either. The Magnetic Resonance Imaging （MRI） examination had shown no significant abnormal signals. The electroencephalogram （EEG） examination had shown diffusing slow waves, and 4 of the cases had shown distinctive periodic three phase waves. The 14-3-3 protein was detected in the cerebrospinal fluid in 3 cases but PRNP gene mutation was not detected. Brain biopsy was done in 1 case, and PrPSc was detected in the brain tissue. Conclusions The incipient symptom of CJD was not typical. Detecting 14-3-3 protein in CSF and continuous EEG monitoring could be specific methods for early diagnosis of CJD.