摘要
目的探讨散发性克雅病(sporadic Creutzfeldt-Jakob disease,sCJD)的临床特点。方法回顾性分析2013年1月至2022年10月安徽中医药大学神经病学研究所附属医院临床诊断的10例疑似sCJD患者的临床资料,包括基线资料、发病历程、临床特点、脑电图(electroencephalogram,EEG)、颅脑MRI、脑脊液及血清学指标等结果分析,并进行文献复习。结果10例疑似sCJD患者均为中老年亚急性起病,病程早期的临床表现缺乏特异性,多为认知功能下降、精神行为异常及肌阵挛、共济失调症状等,病情进展较快,最终发展为无动性缄默症。EEG检查发现,在病程早期,患者的EEG不同程度地出现背景α波解体,θ波、δ波增多;随病程进展,均出现1.5~2 Hz三相波。10例患者的头颅MRI均见多发片状高信号,分布于皮层及基底节区,FLAIR、DWI上呈高信号,形成“飘带征”。7例患者行脑脊液14-3-3蛋白检查,3例阳性,其中1例显示朊病毒阳性。总病程平均为4.5个月。结论sCJD的临床表现复杂多样,其病程进展快速且致命。当临床表现为认知水平下降、精神行为及睡眠异常等时,应行颅脑MRI、EEG、脑脊液14-3-3蛋白、朊蛋白RT-QuIC检查;其中影像学及EEG特征性改变往往在临床疑似sCJD病例的早期诊断中起到重要作用。
Objective To investigate clinical characteristics of sporadic Creutzfeldt-Jakob disease(sCJD).Methods A retrospective analysis was conducted on clinical data of 10 patients with suspected sCJD diagnosed at the affiliated Hospital of the Institute of Neurology,Anhui University of Chinese Medicine from 2013 to 2022.Clinical data included baseline data,pathogenesis,clinical characteristics,electroencephalography(EEG),cranial MRI,cerebrospinal fluid and serological indicators.EEG was analyzed,and literature review was conducted.Results All 10 patients with suspected sCJD were middle-aged and elderly with subacute onset,denied contact with the infectious source.They had non-specific clinical manifestations in the early stages of the disease,mostly including cognitive decline,abnormal mental behavior,muscle spasms and ataxia symptoms.The disease progressed rapidly and eventually developed into passive mutism.EEG examination revealed that in the early stage of the disease,EEG showed varying degrees of disintegration of backgroundαwaves,with increasedθandδwaves.As the disease progressed,all patients exhibited triphasic waves at 1.5~2 Hz.Multiple patchy hyperintensities were seen in cranial MRI of 10 patients,predominantly distributing in the cortex and basal ganglia,with hyperintensities on FLAIR and DWI,forming a‘ribbon sign’.There were 7 patients who were examined for 14-3-3 protein in cerebrospinal fluid(CSF).There were 3 patients showing positive results,and one patient was prion protein positive in CSF.An average of total course of illness was 4.5 months.Conclusion The clinical manifestations of sCJD are complex and diverse,with rapid and fatal disease progression.When clinical symptoms such as cognitive decline,psychiatric and behavioral abnormalities,and sleep disturbances are present,cranial MRI,EEG and CSF 14-3-3 protein testing should be performed.Imaging and EEG characteristic alterations often play an important role in the early diagnosis of clinical suspected sCJD cases.
作者
赵静
付晓明
梅燕
孙强
ZHAO Jing;FU Xiaoming;MEI Yan(Department of Special Function Examination,the affiliated Hospital of Institute of Neurology,Anhui University of Traditional Chinese Medicine,Hefei(230061),Anhui,China)
出处
《癫痫与神经电生理学杂志》
2025年第5期271-275,F0002,共6页
Journal of Epileptology and Electroneurophysiology
基金
安徽省高等学校科学研究项目重点项目(2024AH051009)。
关键词
朊蛋白
克雅病
三相波
飘带征
prion protein
Creutzfeldt-Jakob disease
triphasic waves
ribbon sign
