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克雅氏病:一例报告。

Creutzfeldt-Jakob disease: A case report.

作者信息

Butt Fahad Rasool, Dhivagaran Thanansayan, Naqvi Syed

机构信息

Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.

Department of Medical Imaging, Western University, Windsor, Ontario, Canada.

出版信息

Radiol Case Rep. 2024 Nov 29;20(2):1095-1098. doi: 10.1016/j.radcr.2024.11.011. eCollection 2025 Feb.

DOI:10.1016/j.radcr.2024.11.011
PMID:39687838
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11647126/
Abstract

Creutzfeldt-Jakob Disease (CJD) is a rare, fatal neurodegenerative disorder that is caused by prion proteins. Patients often present with rapidly progressive dementia, ataxia, myoclonus, memory impairment, visual problems, and changes in personality. In this case report, we aimed to address the course of a 62 year old female who presented with progressive decline in cognitive function and died within 6 months of presentation. The patient underwent cerebrospinal fluid testing, MRI brain, and electroencephalography during her stay in the hospital. Ultimately, an autopsy was performed, which demonstrated spongiform changes, neuronal loss, and astrogliosis, consistent with CJD.

摘要

克雅氏病(CJD)是一种罕见的致命性神经退行性疾病,由朊病毒蛋白引起。患者常表现为快速进展的痴呆、共济失调、肌阵挛、记忆障碍、视觉问题和人格改变。在本病例报告中,我们旨在阐述一名62岁女性患者的病程,该患者出现认知功能进行性下降,并在就诊后6个月内死亡。患者住院期间接受了脑脊液检查、脑部磁共振成像(MRI)和脑电图检查。最终进行了尸检,结果显示有海绵状改变、神经元丢失和星形胶质细胞增生,符合克雅氏病的表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3088/11647126/1d518fc270ae/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3088/11647126/1d518fc270ae/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3088/11647126/1d518fc270ae/gr1.jpg

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本文引用的文献

1
Systematic review of pharmacological management in Creutzfeldt-Jakob disease: no options so far?对克雅氏病(Creutzfeldt-Jakob disease)药物治疗的系统评价:目前尚无治疗选择?
Arq Neuropsiquiatr. 2022 Aug;80(8):837-844. doi: 10.1055/s-0042-1755341. Epub 2022 Oct 17.
2
Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt-Jakob disease: evaluation of a first-in-human treatment programme.普里昂蛋白单克隆抗体(PRN100)治疗克雅氏病:首例人体治疗方案的评估。
Lancet Neurol. 2022 Apr;21(4):342-354. doi: 10.1016/S1474-4422(22)00082-5.
3
Diagnosis of prion diseases by RT-QuIC results in improved surveillance.
通过 RT-QuIC 检测结果进行朊病毒病诊断可提高监测效果。
Neurology. 2020 Aug 25;95(8):e1017-e1026. doi: 10.1212/WNL.0000000000010086. Epub 2020 Jun 22.
4
Report of a Case of Creutzfeldt-Jakob Disease With an Unusual Clinical Presentation.一例具有不寻常临床表现的克雅氏病病例报告。
Front Behav Neurosci. 2020 Apr 9;14:55. doi: 10.3389/fnbeh.2020.00055. eCollection 2020.
5
Creutzfeldt-Jakob disease: a systematic review of global incidence, prevalence, infectivity, and incubation.克雅氏病:全球发病率、患病率、传染性和潜伏期的系统综述。
Lancet Infect Dis. 2020 Jan;20(1):e2-e10. doi: 10.1016/S1473-3099(19)30615-2.
6
Sporadic Creutzfeldt-Jakob disease.散发性克雅氏病
Handb Clin Neurol. 2018;153:155-174. doi: 10.1016/B978-0-444-63945-5.00009-X.
7
Magnetic ressonance imaging in the diagnosis of Creutzfeldt-Jakob disease: Report of two cases.磁共振成像在克雅氏病诊断中的应用:两例报告。
Dement Neuropsychol. 2015 Oct-Dec;9(4):424-427. doi: 10.1590/1980-57642015DN94000424.
8
CJD: Understanding Creutzfeldt-Jakob disease.克雅氏病:了解克雅氏病
Nursing. 2016 Mar;46(3):36-42; quiz 42-3. doi: 10.1097/01.NURSE.0000480598.84274.0f.
9
Interpretation of cerebrospinal fluid protein tests in the diagnosis of sporadic Creutzfeldt-Jakob disease: an evidence-based approach.脑脊液蛋白检测在散发性克雅氏病诊断中的解读:一种基于证据的方法。
CMAJ. 2014 Jun 10;186(9):E333-9. doi: 10.1503/cmaj.130720. Epub 2014 Jan 20.
10
Creutzfeldt-Jakob disease: a case report and differential diagnoses.克雅氏病:一例病例报告及鉴别诊断
Hawaii J Med Public Health. 2013 Apr;72(4):136-9.