Marta Del Chicca, Elisabetta Belli, Valentina Nicoletti, Enrico Bergamin, Linda Giampietri, Alessia Pascazio, Michelangelo Maestri Tassoni, Filippo Baldacci, Gabriele Siciliano, Gloria Tognoni
{"title":"Sporadic fatal insomnia.","authors":"Marta Del Chicca, Elisabetta Belli, Valentina Nicoletti, Enrico Bergamin, Linda Giampietri, Alessia Pascazio, Michelangelo Maestri Tassoni, Filippo Baldacci, Gabriele Siciliano, Gloria Tognoni","doi":"10.1136/pn-2024-004301","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":39343,"journal":{"name":"PRACTICAL NEUROLOGY","volume":" ","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"PRACTICAL NEUROLOGY","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/pn-2024-004301","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍：
The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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