磁共振弥散加权对克-雅氏病早期诊断的意义

目的探讨克-雅氏病(Creutzfeldt-Jakob disease,CJD)早期的磁共振弥散加权成像(DWI)表现。方法回顾性分析和总结3例CJD患者的临床症状及体征、影像学、脑电图和脑脊液中14-3-3蛋白的改变等资料。结果 3例患者脑部MRI均表现为皮质不同程度的DWI"缎带样"高信号,脑电图均出现周期性尖慢波或三相波,脑脊液14-3-3蛋白2例(+),1例(-)。结论对于绝大部分CJD患者,无论脑电图和脑脊液中14-3-3蛋白是否改变,DWI即可先于前两者出现异常改变,对于临床上出现早期相应症状及体征的患者,若DWI有此特征性改变,应高度疑诊CJD,故应考虑将DWI的异常改变纳入CJD的临床诊断标准中。     

Creutzfeldt-Jakob病43例患者的临床分析

目的分析43例临床可能或很可能克雅氏病(CJD)患者的临床特征,为CJD早期诊断提供一些参考。方法搜集2013年1月至2016年1月以"可疑CJD"诊断在首都医科大学宣武医院住院的患者,对其临床特点及实验室资料进行分析。结果 CJD通常在60岁左右发病,平均病程5.70±5.08个月;首发症状多变,以迅速进展性痴呆为主。典型临床表现有6种:迅速进展的痴呆、运动系统损害(锥体束、锥体外系及小脑症状)、肌阵挛、无动性缄默、睡眠障碍和视力障碍。结论 CJD的早期诊断应重视其临床特征,当一个患者具有典型特征中的两项或以上表现时,即使14-3-3蛋白、脑电图(EEG)、磁共振(MRI)均不典型,也要高度警惕CJD,定期复查,以免漏诊。     

Creutzfeldt-Jakob病磁共振弥散加权像与临床表现及脑电图一致性的研究

目的探讨散发性Creutzfeldt-Jakob病(CJD)早期、准确诊断的方法,评价磁共振弥散加权像(DWI)在CJD诊断中的地位。方法回顾性比较13例散发性CJD患者DWI异常信号与临床表现及脑电图三相波(PSD)的一致性。结果DWI异常信号与临床表现及脑电图PSD有较高的一致性,并且较临床症状和体征以及PSD表现更早,更敏感;DWI异常信号随病程不断变化,最先表现在大脑皮层区,而后表现在底节区,且底节区异常信号持续时间最长;DWI异常高信号对CJD诊断特异性为81.3%,敏感性为100%,但样本较小。结论临床可疑的CJD患者,头颅DWI检查完全可以作为早期、无创性、准确诊断的重要方法。     

Creutzfeld-Jakob病的临床及脑电图特点

目的探讨克雅（氏）病（Creutzfeld-Jakob disease,CJD）的临床表现及脑电图特点。方法回顾分析10例CJD患者的临床表现及脑电图特点。结果CJD患者以进行性痴呆和肌阵挛最常见,首发症状多为抑郁、失眠、头痛、头晕、记忆力减退及行走不稳。典型脑电图呈阵发周期现象,周期波为高幅尖波、慢波、三相波或多相波,脑电图异常程度随患者病情加重而持续性加重。MRI异常表现为基底节区可见等T1/长T1、长T2信号,双侧基底节对称性钙化及脑皮质萎缩,部分脑脊液蛋白质增高。结论结合典型临床表现,动态脑电图可为CJD的早期临床诊断提供依据。     

9例散发型克雅病患者的临床表现和脑电图特点分析

目的 探讨散发型克雅氏病(CJD)的临床特点、脑电图(EEG)及MRI表现。方法 回顾性分析9例高度疑似克雅氏病患者的临床资料。结果 本组9例患者中7例亚急性起病,2例慢性起病,主要的临床症状和体征有进行性痴呆、精神行为异常、头晕、共济失调、肌阵挛、锥体外系症状和锥体束征等; EEG检查均异常,其中7例表现为典型的周期性三相波,2例为弥漫性慢波; 所有病例均行头部磁共振成像(MRI)检查显示大脑皮层、尾状核和弥散加权像(DWI)的高信号。所有病例行脑脊液14-3-3蛋白检测,其中6例为阳性,3例为阴性。结论 临床上对快速进展性痴呆患者应进行脑电图、头颅MRI检查,并检测14-3-3蛋白,以利于CJD的早期诊断。EEG与临床症状密切相关,7例患者在中晚期表现出典型的周期性尖慢复合波(PSWCs)和肌阵挛的临床特征。     

Creutzfeldt-Jakob病的临床及脑电图特点

目的 探讨Creutzfeldt-Jakob病(CJD)的临床及脑电图(EEG)特点.方法 回顾性分析14例CJD患者的临床资料.结果 14例患者临床表现均有进行性痴呆和肌阵挛,12例早期表现为抑郁、失眠、头痛、头晕、记忆力减退、行走不稳.14例患者EEG均呈阵发周期波,周期波为高波幅双相、三相或多相尖波、尖-慢综合波,其中3例发病后4～9周第2次EEG检查时出现特征性周期波,1例发病后14周第3次EEG检查时出现特征性周期波.2例行MR弥散加权成像检查示额顶叶皮质区出现异常信号.结论 CJD的临床特征为进行性痴呆和肌阵挛,发病后3～14周EEG出现阵发周期波.对于早期病例应行EEG跟踪检查.     

以痴呆为首发的朊蛋白病42例临床分析

目的分析以痴呆为首发的Creutzfeldt-Jakob朊蛋白病的临床特点。方法回顾性分析我院收治的42例以痴呆为首发的朊蛋白病的患者临床资料,分析其CSF14-3-3蛋白质、脑电图、头部CT、MRI、DWI的特点。结果患者的临床特点除早发痴呆的各项表现外,还出现了锥体束征、精神行为异常、共济失调、肌痉挛以及锥体外系征;37例患者脑电图出现周期性的三相波;进行MRI弥散加权(DWI)成像的20例患者中,15例出现双侧皮质异常高信号,3例出现基底节及皮质异常高信号;18例行脑脊液14-3-3蛋白质检测,只有5例显示为阳性。结论 CJD病最为重要的临床辅助检测手段为行DWI以及脑电图的检测。     

Creutzfeldt-Jakob病11例临床分析

目的 Creutzfeldt-Jakob病(CJD)临床少见,本文旨在提高临床医生对此病的认识.方法 总结复旦大学附属华山医院诊断为CJD的患者11例,行脑电图、头部MRI、DWI、头部CT、CSF14-3-3蛋白检查.结果 主要临床症状和体征有进行性痴呆、共济失调、肌阵挛、精神行为异常、锥体束征、视力下降、锥体外系征.脑电图均有异常,9例出现周期性三相波.5例MRI弥散加权像中3例双侧皮质显示异常高信号,1例示基底节及皮质异常高信号,4例行脑脊液14-3-3蛋白检查,1例阳性.结论 CJD临床表现以急速发展的进行性痴呆和肌阵挛最具特征性,脑电图、DWI、CSF14-3-3是诊断本病的重要检查手段.     

Creutzfeldt-Jakob病的临床、影像学及电生理特点

目的探讨Creutzfeldt-Jakob病(CJD)的临床、影像学及电生理特点。方法回顾性分析28例很可能CJD患者的临床资料。结果本组28例患者中,5例急性起病,17例亚急性起病,6例慢性起病。以头晕、行走不稳为首发症状11例(39.3%),认知功能障碍10例(35.7%),视觉症状3例(10.7%),精神症状、失眠、反复跌倒、言语不清各1例(3.6%)。主要临床症状包括进行性痴呆28例(100%)、肌阵挛21例(75.0%)、共济失调19例(67.9%)、精神行为异常7例(25.0%)、锥体束征20例(71.4%)、锥体外系症状15例(53.6%)、视觉障碍6例(21.4%)、睡眠障碍11例(39.3%)、失语9例(32.1%)。12例(42.9%)患者CSF14-3-3蛋白阳性。24例(85.7%)患者大脑皮质或/及基底节出现异常高信号≥2处。8例(28.6%)患者EEG出现典型的周期性尖慢复合波(PSWCs);12例(42.9%)有弥漫性对称或不对称或局灶性慢波活动;8例(28.6%)间隙性节律性三相波或delta波,以前额为著或全导同步出现。结论 CJD患者多为亚急性、慢性起病,首发临床症状不典型,病程进展至中晚期出现典型的临床症状,接近一半的患者CSF14-3-3蛋白阳性,大部分患者MRI DWI可见异常信号,接近三分之一的患者EEG出现典型的PSWCs。     

3例很可能克雅脑病患者的临床表现及脑电图动态分析

目的:分析克雅脑病(CJD)患者的临床表现、病程及脑电图的动态变化.方法:回顾性分析我院3例诊断为很可能CJD的患者,行脑电图、头部MRI、CSF14-3-3蛋白检查.结果:主要临床表现为进行性痴呆、共济失调、肌阵挛、精神行为异常、锥体外系征及缄默等.3例脑电图均有弥漫性异常,均出现典型周期性三相波,1例在视频脑电图监...     

散发型克雅病7例患者的临床、脑电图及影像学分析

目的 探讨散发型克雅病(sCJD)的临床、脑电图及影像学特点。方法 回顾性分析7例散发型克雅病患者的临床表现、脑电图、影像学特点。结果 本组亚急性起病5例,慢性起病2例,主要的临床症状和体征有进行性痴呆、精神行为异常、视觉障碍、头晕、共济失调、肌阵挛、言语笨拙、锥体外系症状和锥体束征等; EEG检查均有异常,其中6例脑电图检查示典型的周期性三相波发放,1例患者入院脑电图检查未见异常波发放,1月后复查脑电图发现周期性三相波; 7例均行颅脑MRI检查,T₂加权序列(T₂WI)、液体衰减反转恢复序列(T₂ FLAIR)及弥散加权成像(DWI)在皮质、尾状核、壳核等发现异常高信号,其中1例在DWI像上发现随着疾病进展尾状核、壳核、皮层信号先明显增高,后稍微下降; 6例行脑脊液14-3-3蛋白检测,其中4例为阳性,2例为阴性。结论 临床上对快速进展型痴呆的患者,应考虑克雅病的可能,尽早行脑电图、颅脑MRI以及脑脊液14-3-3蛋白检测有助于临床早期诊断; 脑电图、颅脑MRI在疾病早期可无典型改变,则应短期内复查,动态观察。     

Comparison of diffusion-weighted MRI with 18F-fluorodeoxyglucose-positron emission tomography/CT and electroencephalography in sporadic Creutzfeldt–Jakob disease

18F-fluorodeoxyglucose-positron emission tomography/CT (18F-FDG PET/CT) scanning may be a useful tool for early diagnosis of sporadic Creutzfeldt–Jakob disease (sCJD), as it may reveal lowered cellular glucose transport and metabolism in the cortex, cerebellum and basal ganglia. The aim of the present study was to compare the findings from PET/CT, MRI and electroencephalography (EEG) for patients with sCJD, to explore whether typical sites or reliable patterns of regional metabolic change could be found and to evaluate the results of diagnostic imaging in the light of clinical symptomatology. Five patients with biopsy-confirmed sCJD and nine with probable sCJD (aged 36–68 years) were evaluated using PET/CT, diffusion-weighted (DW)-MRI and EEG. In 13 of the 14 patients (92.86%), PET/CT imaging detected extra regions with abnormalities in addition to the hyperintense areas shown with DW-MRI. Two patients with no abnormal DW-MRI findings in the basal ganglia had bilateral extrapyramidal signs accompanied by basal ganglia hypometabolism on PET. Eight patients (57.14%) had decreased FDG uptake in the thalamic nuclei on PET scans; however, DW-MRI did not identify corresponding hyperintense changes in the thalamic nuclei. In 11 patients (78.57%), DW-MRI revealed more regions with abnormalities than EEG, and 10 patients (71.43%) had DW-MRI abnormalities in the thalamic nuclei and basal ganglia that EEG was unable to detect. There was a high level of correspondence among the PET/CT, DW-MRI and EEG results, with PET revealing more abnormal regions than the other imaging modalities. In the absence of neuropathological findings, FDG-PET could improve the accuracy of sCJD diagnosis when combined with DW-MRI and EEG, particularly for differentiating sCJD from paraneoplastic syndromes. Our results suggest that PET/CT is able to detect sCJD at an earlier stage and with greater sensitivity than DW-MRI.     

扩散加权成像诊断散发性Creutzfeldt-Jakob病价值

目的评价扩散加权成像(DWI)对散发性Creutzfeldt-Jakob病的临床诊断价值。方法回顾性分析21例临床诊断为很可能Creutzfeldt-Jakob病患者临床和MRI资料,总结其DWI特征。结果21例散发性Creutzfeldt-Jakob病患者DWI表现为大脑皮质"飘带"样高信号、尾状核和(或)豆状核高信号。异常信号发生部位以大脑皮质合并基底节区最常见(16例,76.19%),单纯皮质受累3例(14.29%)、单纯基底节区受累2例(9.52%);大脑皮质病灶中以额叶受累最常见(15例,78.95%),其次依次为顶叶(13例,68.42%)、颞叶(12例,63.16%)和枕叶(9例,47.37%)。与常规MRI相比,DWI显示病灶更清晰,病灶部位表观扩散系数值下降。21例中5例随访时,DWI高信号强度和范围有所变化,仅1例异常信号范围缩小。结论散发性Creutzfeldt-Jakob病的DWI表现具有一定特异性,推荐作为拟诊散发性Creutzfeldt-Jakob病的检查方法。     

MM2‐cortical‐type sporadic Creutzfeldt‐Jakob disease with early stage cerebral cortical pathology presenting with a rapidly progressive clinical course

We report the case of a 67‐year‐old man with MM2‐cortical‐type sporadic Creutzfeldt‐Jakob disease (sCJD) with a rapidly progressive clinical course of 5 months. Initial symptoms were progressive memory disturbance and dementia. MRI revealed high signal‐intensity lesions on diffusion‐weighted images in the bilateral frontal and occipital cortices. Myoclonus and periodic sharp‐wave complexes on the electroencephalogram were observed in the early disease stage. The clinical diagnosis was typical sCJD. Neuropathologic examination at autopsy showed widespread, characteristic cerebral neocortical involvement with large confluent vacuole‐type spongiform change. Spongiform degeneration was also evident in the striatum and medial thalamus. In the cerebellar cortex, slight depletion of Purkinje neurons was evident without spongiform change in the molecular layer or apparent neuron loss in the granule cell layer. The inferior olivary nucleus showed slight hypertrophic astrocytosis without neuron loss. Prion protein (PrP) immunostaining showed widespread, characteristic perivacuolar‐type PrP deposits with irregular plaque‐like PrP deposits in the cerebral neocortex, striatum and medial thalamus. We believe this patient showed early‐stage cerebral cortical pathology of MM2‐cortical‐type sCJD, which may provide clues regarding the pathologic progression of this rare sCJD subtype. Although MM2‐cortical‐type sCJD generally shows slow progression without myoclonus or periodic sharp‐wave complexes, the present patient showed a rapidly progressive clinical course similar to that of MM1‐type sCJD.     

散发性Creutzfeldt-Jakob病的临床和影像学特点

目的探讨散发性Creutzfeldt-Jakob病(sCJD)的临床和影像学特点。方法回顾性分析4例sCJD患者的临床资料。结果4例sCJD患者均表现为亚急性起病,进行性痴呆,伴有肌阵挛;头颅MRI显示对称性或非对称性大脑皮质彩带样和(或)基底节弥散加权成像(DWI)高信号。结论sCJD的临床特点为进展性痴呆伴肌阵挛,头颅MRI特别是DWI出现高信号为其病变特点。     

Severe cortical involvement in MV2 Creutzfeldt–Jakob disease: An autopsy case report

MV2 type sporadic Creutzfeldt–Jakob disease (sCJD) is reported to have a long duration and marked involvement of the cerebral deep gray matter. We describe an autopsied long‐surviving sCJD case of MV2. In the early stages, the patient exhibited memory impairment, attention deficit and semantic memory disorder. Diffusion‐weighted MRI showed abnormal hyperintensity signals along the cerebral cortex, sparing the thalami and basal ganglia. Pathological observations included: severe spongiosis throughout the cerebral cortex, several kuru plaques and plaque‐like PrP deposits in the cerebellum, with only minimal degeneration in the thalami and basal ganglia. Our case suggests that MV2 has a wide clinicopathological spectrum, which ranges from “VV2” to “MM2” type.     

MRI sequence findings in sporadic Creutzfeldt–Jakob disease

MRI has had an important role in the diagnosis of Creutzfeldt–Jakob disease (CJD). The aim of our study was to compare the efficacy of different MRI sequences among six biopsy-proven patients with sporadic CJD (sCJD) and seven patients with probable sCJD. These 13 patients with CJD aged from 36 years to 75 years (mean age: 55.5 years) were evaluated with T1-weighted, T2-weighted, and fluid-attenuated inversion recovery (FLAIR) MRI and diffusion-weighted imaging (DWI). The characteristic MRI lesion pattern was found to be bilateral, symmetric and hyperintense signal changes in the basal ganglia and cortical regions. Two major lesion patterns were identified in all patients involving the cortex and basal ganglia. No signal abnormality was found in the thalamus. We found lesions in the cortex and basal ganglia in 7/13 patients (54%), isolated cortical involvement in 2/13 patients (15%), and isolated basal ganglia lesions in 4/13 patients (31%). The cortical involvement was widespread (in at least two regions) and usually included the frontal or occipital lobes (9/13, 69%) on DWI. Only one patient showed moderate high-signal intensity in the basal ganglia on T2-weighted MRI. T1-weighted MRI revealed no signal intensity abnormalities. We conclude that high signal changes in the basal ganglia and cerebral cortex on FLAIR and DWI are useful in the diagnosis of sCJD. Isolated cortical involvement on DWI and FLAIR should lead to a suspicion of CJD. DWI is the most sensitive MRI technique in the diagnosis of CJD, which supports an amendment to the clinical diagnostic criteria for sCJD to include findings from MRI.     

散发型Creutzfeldt-Jakob病的临床、病理及头颅核磁DWI影像特点研究

目的 探讨散发型Creutzfeldt-Jakob病（sCJD）的临床、病理、头颅核磁影像学特点和内在关系，分析弥散加权成像（DWI）的诊断价值。方法 对3例sCJD患者的临床特征、病理改变和头颅核磁DWI异常信号进行分析。结果 3例患者DWI病变主要分布于皮层及纹状体。皮层异常信号首先出现与临床先有智能下降符合。DWI对于早期发现特异的皮层和基底节高信号优于传统核磁的T1WI、T2WI及FLAIR技术。DWI异常发现早于典型脑电图改变。在DWI异常信号显著部位所取活检组织病理改变显著。在DWI提示下，早期行脑活检可明显缩短确诊时间。结论 头颅核磁DWI技术可早期发现皮层及基底节异常信号，具有无创、快捷优点，有助于sCJD早期诊治。     

An autopsy case of MM2‐cortical + thalamic‐type sporadic Creutzfeldt‐Jakob disease

A 59‐year‐old Japanese man presented with depressed mood, insomnia, abnormal behavior and dementia. Visual and gait disturbance with ataxia also developed. Diffusion‐weighted MRI showed widespread regions of hyperintensity in the bilateral cerebral cortex. The patient died at 62 after a progressive clinical course of 32 months. Myoclonus, periodic sharp‐wave complexes on EEG, and akinetic mutism state were not observed. Neuropathologic examination showed widespread cerebral neocortical involvement with both large confluent vacuole‐type, alongside fine vacuole‐type spongiform changes. Mild spongiform degeneration was observed in the striatum and lateral thalamus. Severe neuron loss with hypertrophic astrocytosis in the medial thalamus and inferior olivary nucleus was present. Cerebral white matter showed diffuse myelin pallor indicating panencephalopathic‐type pathology. In the cerebellar cortex, severe Purkinje neuron loss was observed, but no spongiform degeneration in the molecular layer or neuron loss in the granular cell layer. PrP immunostaining showed widespread perivacuolar‐type PrP, irregular plaque‐like PrP, and synaptic‐type PrP depositions in the cerebral neocortex. Mild PrP deposition was observed in the striatum, lateral thalamus and brainstem, whereas PrP deposition was not apparent in the medial thalamus and inferior olivary nucleus. PrP gene analysis showed no mutations, and methionine homozygosity was observed at codon 129. Western blot analysis of protease‐resistant PrP showed type 2 PrP pattern. MRI and cerebral neocortical pathology suggested MM2‐cortical‐type sporadic Creutzfeldt‐Jakob disease (sCJD), whereas the clinical course and pathology of the medial thalamus and inferior olivary nucleus suggested MM2‐thalamic‐type sCJD. We believe this was a combination of MM2‐cortical‐type and MM2‐thalamic‐type sCJD, which explains the broad spectrum of MM2‐type sCJD findings and symptoms.     

An autopsied case of MV2K + C‐type sporadic Creutzfeldt‐Jakob disease presenting with widespread cerebral cortical involvement and Kuru plaques

MV2‐type sporadic Creutzfeldt‐Jakob disease (sCJD), which was previously called “Kuru‐plaque variant”, was gradually revealed to have a wide spectrum and has been classified into three pathological subtypes: MV2K, MV2C and MV2K + C. We herein describe the detailed clinical findings and neuropathologic observations from an autopsied MV2K + C‐type Japanese sCJD case with widespread cerebral cortical pathology and Kuru plaques. In the early stages of the disease, the patient exhibited gait disturbance with ataxia and dysarthria as well as gradual appearance of cognitive dysfunction. Diffusion‐weighted images (DWI) on MRI revealed extensive cerebral cortical hyperintensity. Pathologic investigation revealed extensive spongiform change in the cerebral cortex, particularly in the deeper layers. Vacuole size varied, and some were confluent. Prion protein (PrP) immunostaining revealed extensive PrP deposition in the cerebral cortex, basal ganglia, thalamus, cerebellum, brainstem and spinal cord. In the cerebral cortex, synaptic‐type, Kuru plaque‐like, and coarse plaque‐type PrP depositions were mainly observed, along with some perivacuolar‐type PrP depositions. Kuru plaques and coarse plaque‐type PrP depositions also were observed in the cerebellar cortex. PrP gene analysis revealed no mutations, and polymorphic codon 129 exhibited Met/Val heterozygosity. Western blot analysis revealed a mixture of intermediate‐type PrP^Sc and type 2 PrP^Sc. Based on previous reports regarding MV2‐type sCJD and the clinicopathologic findings of the present case, we speculated that it may be possible to clinically distinguish each MV2 subtype. Clinical presentation of the MV2K + C subtype includes predominant cerebral cortical involvement signs with ataxia and DWI hyperintensity of the cerebral cortex on MRI.