一个换了六副眼镜的人:克雅氏病海登海恩变异型的一个病例

Q3 Multidisciplinary Annals of Clinical and Experimental Neurology Pub Date : 2024-07-08 DOI:10.17816/acen.977
Ishwarya Thiruvuru, P. Hazeena, Rithvik Ramesh, S. Shanmugam, Deepa Avadhani
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引用次数: 0

摘要

克雅氏病(CJD)是一种罕见的快速进展性疾病。一名 54 岁的教授最初出现隐匿性、进行性视觉症状。影像学检查提示为感染后脑炎,但症状发展为共济失调、协调困难和认知能力下降。重复核磁共振成像发现与 CJD 一致,并有临床和电生理学证据支持。虽然脑脊液中的14-3-3蛋白尚无定论,但海登海恩变异型CJD的嫌疑很大。在共济失调和痴呆的同时,孤立的视觉症状也在迅速发展,这促使人们怀疑该变体。临床检查、神经影像学检查和脑电图检查在诊断中起着至关重要的作用。
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A man who changed six spectacles: а case of Heidenhain variant of the Creutzfeldt–Jakob disease
Creutzfeldt–Jakob Disease (CJD) is a rare and rapidly progressive condition. A 54-year-old professor initially presented with insidious, progressive visual symptoms. Imaging suggested post-infectious encephalitis, but symptoms progressed to ataxia, coordination difficulties, and cognitive decline. Repeat MRI revealed findings consistent with CJD, supported by clinical and electrophysiological evidence. Though 14-3-3 protein in CSF was inconclusive, Heidenhain variant CJD was strongly suspected. Isolated visual symptoms progressing rapidly alongside ataxia and dementia prompt suspicion of this variant. Clinical examination, neuroimaging, and EEG play crucial roles in the diagnosis.
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来源期刊
Annals of Clinical and Experimental Neurology
Annals of Clinical and Experimental Neurology Medicine-Neurology (clinical)
CiteScore
0.80
自引率
0.00%
发文量
32
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