摘要目的 报道1例家族性致死性失眠症(fatal familial insomnia,FFI)患者的临床表现、影像学特征和基因特点,并结合相关文献进行复习.方法 分析1例FFI以精神行为异常为首要表现,初诊为额颞叶痴呆患者的临床特征、影像学特点、动态脑电图及多导睡眠监测等资料,并对患者及家属血标本进行朊蛋白基因(PRNP)检测.结果 本例患者为中年女性,主要临床表现为精神行为异常、快速进展性痴呆、顽固性失眠、夜间睡眠中的异常运动、喉鸣,头颅MRI示额颞叶萎缩,多导睡眠监测未见有效睡眠,脑脊液14-3-3蛋白检测阴性,PRNP检测显示D178N/129M基因突变.结论 PRNP检测对于确定FFI的诊断具有决定性的作用,对于临床上疑为FFI的患者均应进行基因检测以明确诊断.本例患者的额颞叶萎缩是由FFI引起,还是与FFI并发有待于进一步考证.

abstractsObjective To explore the clinical,imaging,genetic features in a case of fatal familial insomnia (FFI),and review related literatures.Methods A case of middle-aged woman diagnosed as frontotemporal dementia based on the preliminary manifestation of abnormal mental behavior was reported.The clinical features,imaging characteristics,electroencephalogram and polysomnogram of the patient were analyzed,and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP).Results This patient was a middle-aged woman,whose clinical manifestations were abnormal mental behavior,rapid progressive dementia and intractable insomnia,abnormal night sleep behavior and laryngeal stridor.Brain MRI indicated frontotemporal lobe atrophy.Non-sleep disturbance was observed in polysomnography.The cerebrospinal fluid was negative for 14-3-3 protein.The results of PRNP sequencing revealed that the mutation of gene D178N/129M was detected.Conclusions Detection of PRNP plays an important role in the diagnosis of FFI.Patients suspected of FFI in clinic should be detected for genetic testing.Whether the frontotemporal lobe atrophy was caused by FFI or concurrent with FFI remains to be further verified.