Sporadic fatal insomnia.

IF 2.4 Q2 CLINICAL NEUROLOGY
Marta Del Chicca, Elisabetta Belli, Valentina Nicoletti, Enrico Bergamin, Linda Giampietri, Alessia Pascazio, Michelangelo Maestri Tassoni, Filippo Baldacci, Gabriele Siciliano, Gloria Tognoni
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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.

零星致命性失眠。
我们描述了一名 63 岁的男性,经脑脊液实时震颤诱导转换(RT-QuIC)分析和多导睡眠图检查证实,他被诊断患有散发性克雅氏病(sCJD),特别是散发性致命失眠症。他出现认知能力急剧下降、行为改变、睡眠障碍和自律神经失调症状。最初的磁共振成像、脑电图和脑脊液分析均未得出结论,这凸显了诊断这种罕见亚型 CJD 的难度。临床评估是确定 sCJD 诊断的基础。当临床怀疑强烈时,应继续进行诊断工作。在本病例中,全面的临床评估与先进的诊断工具(包括 RT-QuIC 和多导睡眠图)相结合,对明确诊断至关重要。
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来源期刊
PRACTICAL NEUROLOGY
PRACTICAL NEUROLOGY Medicine-Neurology (clinical)
CiteScore
3.70
自引率
3.60%
发文量
113
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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