一名最初被误诊为阿尔茨海默病的致死性家族性失眠症患者：病例报告
A fatal familial insomnia patient initially misdiagnosed as Alzheimer's disease: a case report.
作者信息
Qiao Meizhao, Wu Huimin, Chi Lei, Yao Qun, Qi Xinyang, Ye Xing, Lin Xingjian, Tian Minjie
机构信息
Department of Neurology, The Affiliated Brain Hospital of Nanjing Medical University, No.264, Guangzhou Road, Gulou District, Nanjing, Jiangsu, 210029, China.
出版信息
BMC Neurol. 2024 Dec 23;24(1):489. doi: 10.1186/s12883-024-03999-0.
BACKGROUND
Fatal familial insomnia (FFI) is a rare autosomal dominant inherited disease and a type of prion diseases. We report a case of fatal familial insomnia (FFI) in a 52-year-old man who was initially misdiagnosed as Alzheimer's disease.
CASE PRESENTATION
The patient presented with persistent insomnia as the initial symptom, accompanied by cognitive impairment, autonomic dysfunction, and disorders of voluntary movement. Cerebrospinal fluid analysis revealed a decrease in Aβ levels and an increase in total tau protein. Cranial imaging demonstrated bilateral hippocampal atrophy, while long-term video electroencephalography indicated focal abnormalities. The patient's prion protein gene was D178N/129MM type, confirmed the diagnosis of FFI.
CONCLUSIONS
The key characteristics of FFI include insomnia and rapidly progressive dementia, its differential diagnosis with AD has been extensively discussed in clinical practice. This is the first report of FFI concerning Aβ and tau protein, raises the awareness that the ratio of p-tau/t-tau in cerebrospinal fluid can provide valuable diagnostic clues for FFI.
背景
致死性家族性失眠症（FFI）是一种罕见的常染色体显性遗传病，属于朊病毒病的一种。我们报告一例52岁男性致死性家族性失眠症（FFI）病例，该患者最初被误诊为阿尔茨海默病。
病例介绍
患者以持续性失眠为首发症状，伴有认知障碍、自主神经功能障碍和随意运动障碍。脑脊液分析显示β淀粉样蛋白（Aβ）水平降低，总tau蛋白水平升高。头颅影像学显示双侧海马萎缩，而长期视频脑电图显示局灶性异常。患者的朊病毒蛋白基因是D178N/129MM型，确诊为FFI。
结论
FFI的关键特征包括失眠和快速进展性痴呆，其与阿尔茨海默病（AD）的鉴别诊断在临床实践中已得到广泛讨论。这是关于Aβ和tau蛋白的FFI的首例报告，提高了脑脊液中磷酸化tau蛋白（p-tau）与总tau蛋白（t-tau）比值可为FFI提供有价值诊断线索的认识。
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