快速进展性散发型克–雅病一例并文献回顾

Sporadic Creutzfeldt-Jakob Disease with Rapid Progression: Report of One Case

摘要: 朊蛋白病(prion disease)是一类由具传染性的朊蛋白(prion protein, PrP)所致的中枢神经系统变性病。目前已知的人类朊蛋白病主要有克–雅病(Creutzfeldt-Jakob disease, CJD)、格斯特曼综合征(Gerstmann syndrome, GSS)、致死性家族性失眠症(fatal familial insomnia, FFI)、Kuru病。克–雅病(CJD)是最常见的人类朊蛋白病，发病呈全球性分布，发病率约为1/100万。CJD分为散发型、医源型(获得型)、遗传型和变异型四种类型。80%~90%的CJD呈散发型。克–雅病临床早期症状不典型，症状多且异质性大，给该病早期识别和诊断带来了很大困难。现报道1例快速进展的散发型克–雅病病例，总结其临床表现、影像学及相关检验结果、脑电图等，加强对散发型克–雅病的认识。

Abstract: Prion diseases are a group of degenerative diseases of the central nervous system caused by the infectious prion protein (PrP). The most important known human prion diseases are Creutzfeldt- Jakob disease (CJD), Gerstmann syndrome (GSS), fatal familial insomnia (FFI), and Kuru disease. CJD is the most common human prion disease, with a worldwide distribution and an incidence rate of approximately 0.0001%. It is subdivided into four subtypes: sporadic (sCJD), familial (fCJD), variant (vCJD), and iatrogenic (iCJD). 80%~90% of CJD is sCJD. Due to a variety of factors, including variable presentations and a lack of appropriate gold standard diagnostic methods in the clinical context, it is underdiagnosed and increasingly misdiagnosed. Here, we report a case of sCJD with rapid progression, and summarize its clinical manifestations, imaging and related test results, and electroencephalogram to enhance the understanding of sCJD.