A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature
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 abnormalitie...
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| Language: | English |
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Taylor & Francis Group
2024-12-01
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| Series: | Prion |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/19336896.2023.2298520 |
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| author | Zheng Wang Yueqi Huang Shuqi Wang Jiefang Chen Gesang Meiduo Man Jin Xiaoying Zhang |
| author_facet | Zheng Wang Yueqi Huang Shuqi Wang Jiefang Chen Gesang Meiduo Man Jin Xiaoying Zhang |
| author_sort | Zheng Wang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0f347f476baf4a9c9e5e0697dac2b363 |
| institution | Kabale University |
| issn | 1933-6896 1933-690X |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Prion |
| spelling | doaj-art-0f347f476baf4a9c9e5e0697dac2b3632025-02-05T12:40:51ZengTaylor & Francis GroupPrion1933-68961933-690X2024-12-0118111010.1080/19336896.2023.2298520A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literatureZheng Wang0Yueqi Huang1Shuqi Wang2Jiefang Chen3Gesang Meiduo4Man Jin5Xiaoying Zhang6Affiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaAffiliated Mental Health Center & Hangzhou Seventh People’s Hospital, Zhejiang University School of Medicine, Hangzhou, ChinaFatal 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.https://www.tandfonline.com/doi/10.1080/19336896.2023.2298520Clinical featuresCSF analysisfatal family insomniaPET-CTPRNPTau protein |
| spellingShingle | Zheng Wang Yueqi Huang Shuqi Wang Jiefang Chen Gesang Meiduo Man Jin Xiaoying Zhang A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature Prion Clinical features CSF analysis fatal family insomnia PET-CT PRNP Tau protein |
| title | A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature |
| title_full | A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature |
| title_fullStr | A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature |
| title_full_unstemmed | A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature |
| title_short | A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature |
| title_sort | case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the covid 19 epidemic and review of the literature |
| topic | Clinical features CSF analysis fatal family insomnia PET-CT PRNP Tau protein |
| url | https://www.tandfonline.com/doi/10.1080/19336896.2023.2298520 |
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