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进行性核上性麻痹表型作为克雅氏病的非典型临床表现:一例病例报告及文献复习

Progressive supranuclear palsy phenotype as an atypical clinical presentation of Creutzfeldt-Jakob disease: A case report and review of the literature.

作者信息

Costanzo Matteo, Aiello Flavia, Poleggi Anna, Li Voti Pietro, Fabbrini Giovanni, Belvisi Daniele

机构信息

Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Neurological Centre of Latium, Rome, Italy.

出版信息

Clin Park Relat Disord. 2024 Mar 5;10:100247. doi: 10.1016/j.prdoa.2024.100247. eCollection 2024.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder, characterized by the accumulation of abnormal prion proteins in the brain. While CJD has some typical clinical features, its presentation can be quite heterogeneous, particularly in the early stages of the disease, posing challenges in diagnosis. Atypical manifestations of CJD can mimic various neurodegenerative disorders, including atypical parkinsonisms. In this case report, we present an 81-year-old man who exhibited an atypical clinical presentation of sporadic CJD, initially resembling progressive supranuclear palsy (PSP). The patient presented with symmetric parkinsonism, postural instability, and ocular motor dysfunction, accompanied by rapid clinical deterioration. Alongside the case report, we also provide a review of the literature on atypical presentations of CJD as PSP, highlighting the importance of recognizing these manifestations in clinical practice.

摘要

克雅氏病(CJD)是一种罕见的、快速进展的神经退行性疾病,其特征是大脑中异常朊蛋白的积累。虽然CJD有一些典型的临床特征,但其表现可能非常异质性,尤其是在疾病的早期阶段,这给诊断带来了挑战。CJD的非典型表现可模仿各种神经退行性疾病,包括非典型帕金森综合征。在本病例报告中,我们介绍了一名81岁男性,他表现出散发性CJD的非典型临床表现,最初类似于进行性核上性麻痹(PSP)。患者表现为对称性帕金森综合征、姿势不稳和眼球运动功能障碍,并伴有临床快速恶化。除了病例报告外,我们还对CJD作为PSP的非典型表现的文献进行了综述,强调了在临床实践中认识这些表现的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b30/10937297/e7a1d96a6e3d/gr1.jpg

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