Sun Qingqing, Shen Pingping, Tang Jiayi, Meng Hongmei, Feng Jiachun, Wang Zan, Cui Li
Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People's Republic of China.
Nat Sci Sleep. 2021 Aug 23;13:1441-1448. doi: 10.2147/NSS.S319917. eCollection 2021.
Creutzfeldt-Jakob disease (CJD) subtypes are difficult to identify due to the heterogeneity of the clinical phenotype, and early accurate identification of sporadic CJD (sCJD) subtypes aids prognosis prediction. Currently, the diagnosis of sCJD subtypes is mainly based on brain tissue biopsy or autopsy. In this report, we present a case of confirmed sCJD initially presenting as insomnia. We described detailed information including clinical, electroencephalographic, polysomnographic, positron emission tomography-computed tomographic and other neuroimaging findings, cerebrospinal fluid biomarkers, skin tissue biopsy and whole blood gene sequencing in this patient. An extensive literature search was performed in order to better understand the diagnosis of various sCJD subtypes, particularly the thalamic form, sCJDMM2 (also known as sporadic fatal insomnia). Our study highlights sporadic fatal insomnia as a differential diagnosis of sCJD.
克雅氏病（CJD）亚型因临床表型的异质性而难以识别，早期准确识别散发性克雅氏病（sCJD）亚型有助于预后预测。目前，sCJD亚型的诊断主要基于脑组织活检或尸检。在本报告中，我们呈现了一例最初表现为失眠的确诊sCJD病例。我们描述了该患者的详细信息，包括临床、脑电图、多导睡眠图、正电子发射断层扫描-计算机断层扫描及其他神经影像学检查结果、脑脊液生物标志物、皮肤组织活检和全血基因测序。为了更好地理解各种sCJD亚型的诊断，尤其是丘脑型sCJDMM2（也称为散发性致死性失眠症），我们进行了广泛的文献检索。我们的研究强调散发性致死性失眠症是sCJD的鉴别诊断之一。
