散发性基因变异性CJD2例报告及文献回顾

Report of two cases of genetic Creutzfeldt-Jakob disease and review of related literatures

目的探讨散发性基因变异性CJD的临床表现及脑电图、核磁特征,为其早期诊断与治疗提供帮助。方法对2例经外周血进行基因检测而确诊的CJD患者的临床表现、脑电图、核磁等检查进行回顾性分析,并进行相关的文献回顾。结果在病例1中我们报道了1例71岁的女性,PRNP等位基因E196K变异,129密码子是蛋氨酸纯合子基因型。该患起病无特殊的症状,但是很快出现进行性加重的言语、记忆、认知和运动障碍。在整个病程中脑电图无周期性三相波。整个病程7个月。病例2中我们报道了1例76岁的男性,PRNP等位基因E196A变异,129密码子是蛋氨酸纯合子基因型。该患以精神症状起病,很快出现言语不能、震颤、肌张力增高。脑电图记录到典型的周期性三相波,核磁表现典型,示双额顶叶、左枕叶脑表见条片状稍高信号。结论散发性基因变异性CJD起病快,临床表现多样,脑电图与核磁检查有助于诊断,结合外周血基因检测可以明确诊断。

Objective To explore the clinical and electroencephalography （EEG）and magnatic resonance imaging （MRI） finding of genetic Creutzfeldt-Jakob disease （gCJD）. Methods The clinical, EEG and MRI finding of 2 patients was retrospectively studied, and related literatures were reviewed. Results In the first case, we reported a 71 year-old fe- male with an E196K mutation in one PRNP allele, while the codon 129 was a methionine bomozygous genotype. The patient started with non-specific symptoms, but displayed rapidly progressive disturbances of speech, memory, cognitive and physical movement. No periodic activity was recorded at EEG during the entire disease course. Total clinical course was about seven months. In the second case,we reported a 76 year-old male with an E196A mutation in one PRNP allele,while the codon 129 was a methionine homozygous genotype. To start with the spiritual unusual behavior symptoms, during the course the patient gradually developed aphasia, shaking, and increased muscle tension. Periodic three-phase wave was recorded at EEG during the entire disease course, and the MRI finding was typical, with contralateral frontal, parietal lobe and left occipital lobe flake slightly high signal. Retrospective investigation of the two family members did not reveal similar neurological disorders. Conclusions The onset of gCJD is fast, and the clinical is various,while EEG and MRI are helpful to the diagnosis. gCJD can be defined in combination with genetic testing of peripheral blood.