克雅氏病:一种罕见的疾病-一种常见的装病者

Harshavardhan Kuri, Ankur Sharma, R. Kanth
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引用次数: 0

摘要

克雅氏病(Creutzfeldt-Jakob disease, CJD)是一种人类朊病毒,罕见的神经退行性疾病,病因不明,可导致快速进行性痴呆。由于临床特征不明确,怀疑程度低,诊断CJD比较困难。伴有快速不随意肌抽搐、视觉障碍、小脑和锥体/锥体外体征的快速进行性痴呆是其特征。我们在此报告一名62岁男性,因食欲减退、阑尾僵硬及对称性进行性视力丧失1个月。脑电图表现为0.5 ~ 1.0 Hz周期性尖波复调,MRI表现为弥漫性脑萎缩伴脑室增大。高度怀疑和分子诊断技术是早期识别的主要手段。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Creutzfeldt-Jakob disease: A rare disorder − a common malingerer
Creutzfeldt-Jakob disease (CJD) is a human prion, rare neurodegenerative disorder of unknown etiology that causes rapidly progressive dementia. Diagnosing CJD is difficult due to nonspecific clinical features and low suspicion. Rapidly progressive dementia accompanied with quick involuntary muscle jerking, visual disturbances, cerebellar and pyramidal/extrapyramidal signs are characteristic feature. Here we present a 62-year-old male with decreased appetite, appendicular rigidity and symmetrical progressive loss of vision since 1 month. EEG showed signs of 0.5–1.0 Hz periodic sharp wave complexes (PSWC) and MRI showed diffuse cerebral atrophy with ventriculomegaly. High level of suspicion and molecular diagnostic techniques forms the mainstay for its early identification.
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