散发型克-雅病1例并文献复习

doi:10.19871/j.cnki.xfcrbzz.2024.03.014

摘要/Abstract

摘要： 克-雅病是致命性的神经系统疾病之一,是一种传染性海绵状脑病。散发型克-雅病病因仍不明,神经退行性疾病进展迅速,患者平均生存期为6~12个月。朊蛋白的蓄积导致患者脑组织退化,从而导致一系列临床表现,包括快速进行性痴呆、肌阵挛、震颤、小脑共济失调和锥体外系症状。这些临床表现是非特异性的,早期症状不典型,从而使克-雅病成为一种非常难以诊断的疾病。本例患者系48岁男性,因四肢活动笨拙、智力下降而就诊。查体主要见高级皮层功能严重下降、四肢肌张力高、双下肢巴宾斯基征征阳性等。脑MRI-DWI显示对称性双侧尾状核、壳核、皮层弥散信号异常。脑电图显示双侧大脑半球周期性尖慢复合波发放。脑脊液中14-3-3蛋白阳性,支持散发性克-雅病的诊断。

关键词: 散发性克-雅病, 朊蛋白, 快速进行性痴呆, 肌阵挛, 诊断

Abstract: Being considered among the most fatal neurological conditions, Creutzfeldt-Jakob disease is a transmissible spongiform encephalopathy characterized by its unknown etiology and rapidly progressive neurodegenerative symptoms that often lead to a mean survival of 6 to 12 months. The accumulation of the prion protein causes brain matter degeneration, which leads to a set of clinical findings that include rapidly progressive dementia, myoclonus, tremors, cerebellar ataxia, and extrapyramidal signs. This clinical presentation is non-specific, which makes CJD a very difficult condition to diagnose, due to the low level of clinical suspicion. We present the case of a 48-year-old male presenting to the Neurology department with complaint of limbs clumsiness and cognitive decline. The patient's physical exam was significant for Severely declining in advanced cortical function, muscular hypertonia of extremities, bilateral positive Babinski's sign. Magnetic resonance imaging of his brain showed symmetric bilateral diffusion signal abnormality involving the cortex, bilateral caudate heads and putamina. Electroencephalogram revealed periodic sharp-slow compound wave emission in bilateral cerebral hemispheres. Lumbar puncture was significant for presence of 14-3-3 protein in cerebrospinal fluid. The multiple examinations performed in conjunction with the previous findings supported the diagnosis of sporadic CJD.

Key words: Sporadic Creutzfeldt-Jakob, Prion protein, Rapidly progressive dementia, Myoclonus, Diagnosis

中图分类号:

R742

蔡川, 熊勋波, 杨红军. 散发型克-雅病1例并文献复习[J]. 新发传染病电子杂志, 2024, 9(3): 65-68.

Cai Chuan, Xiong Xunbo, Yang Hongjun. Sporadic Creutzfeldt-Jakob disease: a case report and review of literatures[J]. Electronic Journal of Emerging Infectious Diseases, 2024, 9(3): 65-68.

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