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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 manifestations of CJD and improve the diagnosis and treatment of CJD. Methods A total of 6 CJD patients were collected from Guangzhou City. Magnetic resonance imaging (MRI) and electroencephalography (EEG), 14-3-3 protein and PRNP gene were performed. Most of the results were acute subacute onset, the first symptom of progressive dementia (2 cases) and extracorporeal symptoms (2 cases) based. No cases of dementia disease family history and surgery, pituitary growth hormone use history. MRI examination showed no specific abnormal signal. EEG examination results were diffuse slow wave, 4 cases appeared characteristic periodic three-phase wave. 3 cases of 14-3-3 protein positive, while the PRNP gene sequence analysis were non-mutated. One patient had a biopsy of the brain and positive proteinase K-resistant prion protein (PK-resistant PrP). Conclusions Early clinical manifestations of CJD are not typical. Detection of 14-3-3 protein in cerebrospinal fluid and continuous dynamic EEG examination may be specific methods for early diagnosis of CJD.