致死性家族性失眠症患者一例报告并文献复习

摘要

Objective To summarize the clinical manifestations and correlative auxiliary examination features of fatal familial insomnia (FFI). Methods The clinical manifestations, brain imaging, EEG and gene in a case with FFI were analyzed and the related literatures were reviewed. Results The main clinical manifestations of the 57-year-old female patient included inability to initiate and maintain sleep, inspiratory stridor during sleep, and the following cognitive impairment, fever and sweating. DWI of the brain magnetic resonance did not reveal abnormal high-signal, EEG monitoring showed that sleep figure was disappeared, and no three-phase waves. D178N-129MM haplotype was found in prion protein gene of the patient. 14-3-3 protein was negative in cerebrospinal fluid and blood. Conclusions Detection of the prion protein gene plays a crucial role in the diagnosis of FFI.%目的 总结致死性家族性失眠症(fatal familiar insomnia,FFI)患者的临床表现和实验室检查的特点.方法 分析1例FFI患者的临床表现、影像学、脑电图及基因等资料,并结合文献进行复习.结果 患者为57岁女性,主要表现为入睡困难,睡眠过程中出现吸气性喉鸣,随后出现反应迟钝、低热、多汗等表现.患者头磁共振DWI序列未出现异常高信号,脑电图监测显示睡眠图消失,无三相波,朊蛋白基因检测显示为D178N-129MM的单倍体型,脑脊液14-3-3蛋白为阴性.结论 朊蛋白基因检测在诊断FFI中具有决定性作用.