Sporadic fatal insomnia.
| Autor: | Del Chicca M; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy marta.delchicca@gmail.com., Belli E; Neurology Unit, Versilia Hospital, Viareggio, Toscana, Italy., Nicoletti V; Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy., Bergamin E; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Giampietri L; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Pascazio A; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Maestri Tassoni M; Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy., Baldacci F; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Siciliano G; Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Tognoni G; Neurology Unit, Department of Medical Specialties, Azienda Ospedaliero Universitaria Pisana, Pisa, Toscana, Italy. |
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| Jazyk: | angličtina |
| Zdroj: | Practical neurology [Pract Neurol] 2024 Sep 25. Date of Electronic Publication: 2024 Sep 25. |
| DOI: | 10.1136/pn-2024-004301 |
| Abstrakt: | We describe a 63-year-old man diagnosed with sporadic Creutzfeldt-Jakob disease (sCJD), specifically sporadic fatal insomnia, confirmed through real-time quaking-induced conversion (RT-QuIC) analysis of cerebrospinal fluid and polysomnography. He presented with rapid cognitive decline, behavioural changes, sleep disturbances and dysautonomic symptoms. Initial MR imaging, electroencephalogram and cerebrospinal fluid analyses were inconclusive, highlighting the difficulty in diagnosing this rare subtype of CJD. Clinical evaluation is fundamental in defining the diagnosis of sCJD. When clinical suspicion is strong, the diagnostic work-up should be continued. In this case, the combination of comprehensive clinical evaluations and advanced diagnostic tools, including RT-QuIC and polysomnography, proved essential in making a definitive diagnosis. Competing Interests: Competing interests: None declared. (© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.) |
| Databáze: | MEDLINE |
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