散发性克雅病17例临床分析  

Clinical Features of 17 Patients with Sporadic Creutzfeldt-Jakob Disease

作　　者：梁娜 王梁[1] 刘亚玲[1] 张海波 赵文艳 任博文 LIANG Na;WANG Liang;LIU Yaling;ZHANG Haibo;ZHAO Wenyan;REN Bowen(Department of Neurology,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China)

机构地区：[1]河北医科大学第二医院神经内科,河北省石家庄市050000

出　　处：《中国全科医学》2020年第27期3479-3483,共5页Chinese General Practice

摘　　要：背景 散发性克雅病(sCJD)临床罕见,早期临床表现多变,临床诊断困难,需要结合辅助检查进一步明确。目的 分析17例临床可能或很可能sCJD患者的临床特点及辅助检查结果,为sCJD早期临床诊断提供参考。方法 检索河北医科大学第二医院病案室2014年11月-2018年8月出院诊断为临床可能或很可能sCJD患者的住院病历。收集患者一般资料(性别、年龄、民族、出院诊断、首发症状、主要临床表现)、辅助检查[颅脑MRI、脑电图(EEG)、脑脊液14-3-3蛋白、血清朊蛋白基因(PRNP)、自身免疫性相关的快速进展性痴呆的抗体检查(血清及脑脊液非副肿瘤自身免疫性脑炎相关抗体检查、副肿瘤相关抗体检查)]结果。对患者进行电话随访,记录患者死亡情况、总病程。结果 共纳入17例患者,平均年龄(61.8±6.2)岁,均为汉族;出院诊断为很可能sCJD 16例(94.1%),可能sCJD 1例(5.9%);首发症状主要为记忆力下降(41.2%)、头晕(29.4%)、精神行为异常(17.6%);主要临床表现为认知下降(82.4%)、锥体束/锥体外系损害(47.1%)。16例患者颅脑弥散加权成像(DWI)均出现脑皮质和/或基底核异常高信号,相应表观扩散系数(ADC)低信号。皮质至少2处脑叶沿脑表面脑回状异常高信号,呈“花边征”或“绸带征”,基底核包括单/双侧尾状核、壳核等。1例患者行磁共振波谱成像(MRS)检查,影像学表现为N-乙酰天冬氨酸(NAA)峰降低。16例患者行EEG检查,其中基本节律减慢15例,周期性尖慢复合波(PSWCs) 4例,三相波5例,基本节律减慢背景上的非周期性的癫痫样异常放电4例。8例患者行脑脊液14-3-3蛋白检查,阳性3例。8例患者行PRNP检查,均为:(1)与标准序列比对,序列未出现突变(标准序列号NCBI:NM-183079.1);(2)129位氨基酸多态性为M/M型;(3)219位氨基酸多态性为E/E型。11例患者行血清及脑脊液非副肿瘤自身免疫性脑炎相关抗体检查,均为阴性。9例患者�Background Sporadic Creutzfeldt-Jakob disease(sCJD)is a rare disease characterized by various clinical manifestations in the early stage,which is difficult to diagnose,requiring the assistance of an auxiliary examination.Objective To analyze the clinical features and auxiliary examinations of 17 patients with clinically possible or probable sCJD,providing implications for early diagnosis of sCJD.Methods By searching the records of patients with a discharge diagnosis of clinically possible or probable sCJD in Department of Medical Records,the Second Hospital of Hebei Medical University from November 2014 to August 2018,we collected their general information(gender,age,ethnic group,discharge diagnosis,first symptoms and major clinical manifestations),auxiliary examinations〔brain MRI,EEG,CSF 14-3-3 protein,serum PRNP gene,autoimmune related antibodies of rapidly progressive dementia in serum and cerebrospinal fluid(antibodies related to non-para-tumor autoimmune encephalitis,antibodies associated with para-tumor autoimmune encephalitis)〕.And by a telephone-based follow-up survey,we collected the data about morality and total duration of course.Results Seventeen patients were enrolled,with an average age of(61.8±6.2)years,all of them were Han nationality.Sixteen of them were diagnosed with probable sCJD(94.1%)and other 1 with possible sCJD(5.9%).The first symptoms mainly were memory decline(41.2%),dizziness(29.4%)and psychobehavioral abnormalities(17.6%).The main clinical manifestations were cognitive decline(82.4%)and conical/extrapyramidal impairment(47.1%).Diffusion-weighted imaging(DWI)of the brain performed in 16 cases showed that patients showed abnormally high signal intensity in cortex and/or basal ganglia,and correspondingly low signal intensity in apparent diffusion coefficient(ADC).At least 2 lobes in the cortex showed abnormal high signals of gyrus along the surface of the brain,presenting"lace sign"or"ribbon sign".Basal ganglia included single/bilateral caudate nucleus,putamina,etc showed abnormal h

关 键 词：克-亚综合征 克雅病 散发性 14-3-3蛋白 朊蛋白 三相波 

分 类 号：R741[医药卫生—神经病学与精神病学]