Del Chicca Marta, Belli Elisabetta, Nicoletti Valentina, Bergamin Enrico, Giampietri Linda, Pascazio Alessia, Maestri Tassoni Michelangelo, Baldacci Filippo, Siciliano Gabriele, Tognoni Gloria
Neurology Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
Neurology Unit, Versilia Hospital, Viareggio, Toscana, Italy.
Pract Neurol. 2025 Mar 14;25(2):159-163. doi: 10.1136/pn-2024-004301.
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.
我们描述了一名63岁男性，经脑脊液实时震颤诱导转化（RT-QuIC）分析和多导睡眠图检查确诊为散发性克雅氏病（sCJD），具体为散发性致死性失眠症。他出现了快速认知衰退、行为改变、睡眠障碍和自主神经功能紊乱症状。最初的磁共振成像、脑电图和脑脊液分析结果不明确，凸显了诊断这种罕见的克雅氏病亚型的困难。临床评估对于明确sCJD的诊断至关重要。当临床怀疑强烈时，应继续进行诊断检查。在这个病例中，综合临床评估和包括RT-QuIC及多导睡眠图在内的先进诊断工具相结合，被证明对于做出明确诊断至关重要。
