Yang Tae-Won, Park Byeongsu, Kim Keun Tae, Jun Jin-Sun, Kim Young-Soo, Lee Soon-Tae, Jung Keun-Hwa, Chu Kon, Lee Sang Kun, Jung Ki-Young
Department of Neurology, Gyeongsang National University Changwon Hospital, Gyeongsang National University College of Medicine, Changwon Department of Neurology, Ulsan University Hospital, Ulsan Department of Neurology, Keimyung University Dongsan Medical Center Department of Neurology, School of Medicine, Kyungpook National University, Kyungpook National University Chilgok Hospital, Daegu Department of Neurology, Gyeongsang National University Hospital, Gyeongsang National University College of Medicine, Jinju Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, South Korea.
Medicine (Baltimore). 2018 May;97(18):e0646. doi: 10.1097/MD.0000000000010646.
Fatal familial insomnia (FFI) is a human prion disease that is characterized by sleep-wake cycle deterioration, loss of slow-wave sleep, and motor overactivation over the daily 24-hour period.
Here, we report the case of a 57-year-old man who had an irregular sleep-wake cycle and exhibited frequent movements and vocalizations during sleep.
Video-polysomnography showed disrupted sleep structure, rapid alternation between sleep stages, and an absence of sleep spindles and slow-wave sleep. Moreover, body movements persisted throughout the entire sleep period, including rapid eye movement (REM) sleep. The atonia index was very low (<0.025) during REM sleep. Genetic testing revealed a prion protein gene mutation at codon 178, and the patient was diagnosed with FFI.
We tried to treat with amantadine, doxycycline, and immunotherapies, but the disease progressed.
Sleep disturbance is the most frequent and essential symptom of FFI.
FFI is difficult to diagnose due to the low sensitivity of diagnostic tools. Diagnoses can be further supported by better knowledge of typical polysomnographic findings.
致死性家族性失眠症（FFI）是一种人类朊病毒疾病，其特征为睡眠-觉醒周期紊乱、慢波睡眠丧失以及在每日24小时期间运动过度活跃。
在此，我们报告一例57岁男性病例，该患者睡眠-觉醒周期不规律，睡眠期间频繁出现动作和发声。
视频多导睡眠图显示睡眠结构紊乱、睡眠阶段快速交替，且无睡眠纺锤波和慢波睡眠。此外，在整个睡眠期间，包括快速眼动（REM）睡眠期，身体动作持续存在。REM睡眠期的肌张力缺失指数非常低（<0.025）。基因检测显示朊病毒蛋白基因第178密码子发生突变，该患者被诊断为FFI。
我们尝试使用金刚烷胺、强力霉素和免疫疗法进行治疗，但疾病仍进展。
睡眠障碍是FFI最常见且最主要的症状。
由于诊断工具的敏感性较低，FFI难以诊断。对典型多导睡眠图结果的更深入了解可进一步支持诊断。
