4例散发性克雅病的临床分析

Clinical analysis of four cases of sporadic Creutzfeldt-Jakob disease

目的:分析4例临床诊断为很可能散发性克雅病(sCJD)患者的临床特点,以提高对克雅病的认识。方法:回顾性分析2018年8月至2022年5月中南大学湘雅医学院附属常德医院神经内科收治的4例sCJD患者的临床资料及辅助检查结果。结果:4例患者均为亚急性起病,主要临床特点包括快速进展性痴呆、小脑症状、锥体束征、视觉症状、肌痉挛、无动性缄默。磁共振弥散加权像序列(DWI)可见不对称的沿皮层分布的花边样高信号、基底节曲棍球征。脑电图表现为弥漫性慢波,疾病晚期表现为周期性三相波。4例患者均行脑脊液14-3-3蛋白检查,结果均为阳性。所有患者均于发病后3月内死亡。结论:中老年患者出现快速进展性痴呆,尤其头颅磁共振DWI序列存在皮层高信号,需警惕克雅病,动态复查头颅磁共振、脑电图,脑脊液送检14-3-3蛋白,以免误诊、漏诊。

Objective:To analyze the clinical characteristics of 4 patients with probable sporadic Creutzfeldt-Jakob disease(SCJD)and to improve the knowledge of sCJD.Methods:From August 2018 to May 2022,the datas of 4 patients with sCJD from Department of Neurology,Changde Hospital,Xiangya School of Medicine,Central South University,were analyzed.Results:All of the 4 patients had subacute onset.The main clinical features included rapidly progressive dementia,cerebellar symptoms,pyramidal tract sign,visual symptoms,muscle spasm,and immobility mutism.Asymmetric lace-like hyperintensities along the cortex,basal ganglia,and hockey-stick sign were seen on diffusionweighted imaging(DWI).The electroencephalo-gram showed diffuse slow wave,and the late stage of the disease showed periodic three-phase wave.14-3-3 protein of CSF were examined in all patients and all were positive.All patients died within 3 months after onset.Conclusion:rapid progressive dementia occurs in the middle-aged and elderly patients,especially with the cortical hyperintensity on DWI sequence.It is necessary to be alert to creutzfeldt-jakob disease,Multiply examine the magnetic resonance imaging of head,electroencephalography,and 14-3-3 protein of cerebrospinal fluid,to avoid misdiagnosis.