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散发性克雅氏病:一例报告及文献综述

Sporadic Creutzfeldt-Jakob Disease: A Case Report and Literature Review.

作者信息

Sánchez Pérez María José, Vargas Ana S, Ceballos Vazquez Tagle Benito G, Nieves Perez Cesar A

机构信息

Internal Medicine, Hospital Angeles Pedregal, Mexico City, MEX.

出版信息

Cureus. 2024 Dec 29;16(12):e76589. doi: 10.7759/cureus.76589. eCollection 2024 Dec.

Abstract

Prion disease is an uncommon entity characterized by exceptionally rapid neurodegenerative deterioration. There are three categories of prion disease: (1) sporadic: sporadic Creutzfeldt-Jakob disease (sCJD), sporadic fatal insomnia, and protease-sensitive prionopathy; (2) genetic: genetic Creutzfeldt-Jakob disease, familial fatal insomnia, and Gerstmann-Sträussler-Scheinker syndrome; and (3) acquired: Kuru, iatrogenic Creutzfeldt-Jakob disease, and variant Creutzfeldt-Jakob disease. Although it is an incurable disease, a specific pathophysiological mechanism exists involving neuronal loss, glial cell proliferation, absence of inflammatory response, development of vacuoles leading to a spongiform appearance, and the presence of prions. This case report describes the approach to a patient with progressive cognitive deterioration, later developing motor ataxia and difficulty in language expression. The patient was hospitalized for the diagnostic approach of autoimmune or paraneoplastic encephalitis at Hospital Ángeles del Pedregal, Mexico City, Mexico, with poor response to medical treatment and clinical worsening. Finally, a diagnosis of Creutzfeldt-Jakob disease was concluded through cerebrospinal fluid analysis. This demonstrates the diagnostic challenge this entity presents.

摘要

朊病毒病是一种罕见的疾病,其特征是神经退行性恶化异常迅速。朊病毒病有三类:(1)散发性:散发性克雅氏病(sCJD)、散发性致死性失眠症和蛋白酶敏感型朊病毒病;(2)遗传性:遗传性克雅氏病、家族性致死性失眠症和格斯特曼-施特劳斯勒-谢inker综合征;(3)获得性:库鲁病、医源性克雅氏病和变异型克雅氏病。尽管它是一种无法治愈的疾病,但存在一种特定的病理生理机制,涉及神经元丢失、胶质细胞增殖、无炎症反应、形成导致海绵状外观的空泡以及朊病毒的存在。本病例报告描述了对一名进行性认知衰退患者的诊疗过程,该患者后来出现运动性共济失调和语言表达困难。患者在墨西哥城墨西哥佩德雷加尔天使医院因自身免疫性或副肿瘤性脑炎的诊断方法住院治疗,对药物治疗反应不佳且临床病情恶化。最后,通过脑脊液分析得出克雅氏病的诊断。这表明了该疾病所带来的诊断挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/880c/11775301/2b3df5750262/cureus-0016-00000076589-i01.jpg

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