首发头晕伴行走不稳临床疑似克雅氏病1例并文献复习  

A case of clinical suspected Creutzfeldt-Jakob disease with initial symptoms of dizziness and walking instability and literature review

作　　者：李慕华 唐余 秦昊 朱晓茹 黄常坚 Li Muhua;Tang Yu;Qin Hao;Zhu Xiaoru;Huang Changjian(Youjiang Medical University For Nationalities,Baise,Guangxi,533000,China;Xuzhou Medical University,Xuzhou,Jiangsu,221000,China;Department of Neurosurgery,Wuzhou People's Hospital,Wuzhou,Guangxi,543000,China)

机构地区：[1]右江民族医学院,广西百色533000 [2]徐州医科大学,江苏徐州221000 [3]梧州市人民医院神经外科,广西梧州543000

出　　处：《齐齐哈尔医学院学报》2022年第22期2144-2147,共4页Journal of Qiqihar Medical University

基　　金：右江民族医学院2019年度校级科研课题立项基金(yy2019ky019);2022年江苏省研究生科研与实践创新计划(SJCX22_1284)。

摘　　要：克雅氏病(Creutzfeldt-Jakob disease,CJD)是人类朊蛋白病又称传染性海绵状脑病,是一种极为少见的神经系统疾病。CJD的常见表现包括快速进行性智能衰退、行为改变、小脑功能障碍、视觉障碍及肌阵挛等。然而,作为初始表现,除上述症状或非特异性全身症状外的局灶性神经功能障碍可能会导致误诊或延误诊断。从诊断研究进展来看,CJD的诊断一直基于临床特征和体内标志物的组合,标志物包括脑脊液(CSF)蛋白测定、MRI、EEG以及较新发现的CSF实时震动诱导转换(RT-QuIC)等。尽管在这些检查或指标的敏感性和特异性方面存在某些不足,但诊断准确率较前明显提高。本文报道1例首发头晕伴行走不稳诊断CJD病例,74岁女性患者,最初表现为头晕行走不稳,入院行头颅MRI、脑脊液、脑血管造影等检查未能明确诊断。随后病情加重,有进行性的智能衰退,出现肌阵挛及无动缄默,之后复查头颅MRI及脑电图,出现典型的飘带征及周期性三相波,尽管因患者家属拒绝进一步检查,结合磁共振、脑电图和临床症状,我们做出了CJD的临床诊断。Creutzfeldt-Jakob disease(CJD)is a human prion disease,also known as infectious spongiform encephalopathy,which is an extremely rare nervous system disease.The common manifestations of CJD include rapid progressive intellectual decline,behavioral changes,cerebellar dysfunction,visual impairment and myoclonus.However,as an initial presentation,focal neurological dysfunction in addition to the above symptoms or non-specific systemic symptoms may lead to misdiagnosis or delayed diagnosis.From the progress of diagnostic research,the diagnosis of CJD has been based on the combination of clinical features and in vivo markers,including cerebrospinal fluid(CSF)protein measurement,MRI,EEG,and the relatively new discovery of real-time vibration induced conversion of CSF(RT-QuIC).In spite of the sensitivity and specificity of these tests or indicators has some deficiencies,but obviously increase the diagnostic accuracy compared with their earlier status.This paper reports a case of CJD cases start with dizziness with walking instability.The female patients was 74-year-old,initially characterized by dizziness and walk instability,she received skull MRI,cerebrospinal fluid detection and cerebral angiography at admission,but failed to clear diagnosis.Then the disease worsens,with progressive mental decline,myoclonus and silent silence,the head MRI and electroencephalogram were reexamined,and the typical drift band sign and periodic three-phase waves were found.Although the family members of the patient refused to carry out further examination,combined with magnetic resonance imaging,electroencephalogram and clinical symptoms,we made a clinical diagnosis of CJD.

关 键 词：克雅氏病 朊蛋白病毒 头晕 磁共振 脑电图 

分 类 号：R741[医药卫生—神经病学与精神病学]