Wang Zheng, Huang Yueqi, Wang Shuqi, Chen Jiefang, Meiduo Gesang, Jin Man, Zhang Xiaoying
Affiliated Mental Health Center & Hangzhou Seventh People's Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Prion. 2024 Dec;18(1):1-10. doi: 10.1080/19336896.2023.2298520. Epub 2024 Jan 16.
Fatal familial insomnia (FFI) is a rare autosomal dominant genetic neurodegenerative disease. Generally, FFI patients will develop rapidly progressive dementia, sleep disturbance, autonomic dysfunction, and so on. Cerebrospinal fluid examination of FFI patients normally shows no obvious abnormalities. Here, we report a young male patient who was diagnosed with FFI during the COVID-19 epidemic. Clinical symptoms include psychobehavioral abnormality, cognitive decline, sleep disturbance, and autonomic dysfunction. No abnormalities were found in routine examinations after admission. However, the number of white blood cells in the cerebrospinal fluid increased. Though the patient was treated with anti-infection and immunotherapy, the symptoms were not relieved. A lumbar puncture was performed again, and it was found that the total Tau protein in the cerebrospinal fluid was elevated, and PET results showed that brain metabolism decreased. Finally, a genetic test was used to confirm the diagnosis of FFI. This case suggests that patients with FFI may also have elevated white blood cells in cerebrospinal fluid and timely detection of Tau protein in cerebrospinal fluid is helpful for early identification of FFI. And precise diagnosis relies on genetic testing.
致死性家族性失眠症（FFI）是一种罕见的常染色体显性遗传性神经退行性疾病。一般来说，FFI患者会迅速发展为进行性痴呆、睡眠障碍、自主神经功能障碍等。FFI患者的脑脊液检查通常无明显异常。在此，我们报告一名年轻男性患者，他在新冠疫情期间被诊断为FFI。临床症状包括精神行为异常、认知下降、睡眠障碍和自主神经功能障碍。入院后常规检查未发现异常。然而，脑脊液中的白细胞数量增加。尽管对该患者进行了抗感染和免疫治疗，症状并未缓解。再次进行腰椎穿刺，发现脑脊液中的总 Tau 蛋白升高，PET 结果显示脑代谢降低。最后，通过基因检测确诊为FFI。该病例表明，FFI患者脑脊液中的白细胞也可能升高，及时检测脑脊液中的 Tau 蛋白有助于早期识别FFI。而精确诊断依赖于基因检测。
