Clinical characteristics of eight patients of sporadic Creutzfeldt-Jakob disease with rapidly progressive dementia

doi:10.3877/cma.j.issn.1674-1358.2019.05.014

Abstract

Abstract:

Objective

To investigate the clinical characteristics of 8 patients with sporadic Creutzfeldt-Jakob disease (sCJD), and to improve the understanding of the disease.

Methods

The clinical data and results of auxiliary examinations of 8 cases with sCJD were analyzed, retrospectively, among whom 7 cases were from the Department of Neurology and 1 case from the Infection Center of Beijing Ditan Hospital, Capital Medical University from March 2012 to May 2019.

Results

All the 8 patients had subacute onset. The main clinical characteristics included rapid progressive dementia, extrapyramidal and cerebellar symptoms, pyramidal tract signs, and psychiatric symptoms. Diffusion-weighted imaging (DWI) of magnetic resonance (MR) demonstrates symmetrical or asymmetrical lace-like high signal traveling along the cortex. The electroencephalogram (EEG) was dominated by periodic three-phase waves. Six cases among the 8 patients underwent cerebrospinal fluid 14-3-3 protein examination, all of them were positive. All patients died within 2 years after onset.

Conclusions

Most sCJD were subacute onset, characterized by rapid progressive dementia. The cortical lace sign of magnetic resonance DWI and periodic three-phase wave of electroencephalogram were helpful for clinicians to identify and diagnose the disease in early stage.

Key words: Creutzfeldt Jakob disease, Rapid progressive dementia, Magnetic resonance electroencephalogram, 14-3-3 protein

Lei Zhang, Junhua Gao, Wurong Li, Wenqing Wu. Clinical characteristics of eight patients of sporadic Creutzfeldt-Jakob disease with rapidly progressive dementia[J]. Chinese Journal of Experimental and Clinical Infectious Diseases(Electronic Edition), 2019, 13(05): 426-431.

/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://zhsyhlcgrbzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.1674-1358.2019.05.014

https://zhsyhlcgrbzz.cma-cmc.com.cn/EN/Y2019/V13/I05/426

Figures/Tables 5

References 21

[1]	Johnson RT. Prion diseases[J]. Lancet Neurology,2005,4(10):635-642.
[2]	Ladogana A,Puopolo M,Croes EA, et al. Mortality from Creutzfeldt-Jakob disease and related disorders in Europe, Australia, and Canada[J]. Neurology,2005,64(9):1586-1591.
[3]	Zerr I,Kallenberg K,Summers DM, et al. Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease[J]. Brain,2009,132(10):2659-2668.
[4]	中国痴呆与认知障碍诊治指南写作组,中国医师协会神经内科医师分会认知障碍疾病专业委员会. 2018中国痴呆与认知障碍诊治指南(八):快速进展性痴呆的诊断[J]. 中华医学杂志,2018,98(21):1650-1652.
[5]	Haywood AM. Mechanisms of disease: Transmissible spongiform encephalopathies[J]. J Neurol Neurosurg Psychiatry,1997,63(3):388-390.
[6]	Rabinovici GD,Wang PN,Levin J, et al. First symptom in sporadic Creutzfeldt-Jakob disease[J]. Neurology,2006,66(2):286-287.
[7]	Wang LH,Bucelli RC,Erica P, et al. Role of magnetic resonance imaging, cerebrospinal fluid, and electroencephalogram in diagnosis of sporadic Creutzfeldt-Jakob disease[J]. J Neurol,2013,260(2):498-506.
[8]	Rosseau G. Normal pressure hydrocephalus[J]. Dis Mon 2011,57(10):615-624.
[9]	Macfarlane RG,Wroe SJ,Collinge J, et al. Neuroimaging findings in human prion disease[J]. J Neurol Neurosurg Psychiatry,2007,78(7):664-670.
[10]	Eisenmenger L,Porter MC,Carswell CJ, et al. Evolution of diffusion-weighted magnetic resonance imaging signal abnormality in sporadic Creutzfeldt-Jakob disease, with histopathological correlation[J]. JAMA Neurol,2016,73(1):76-84.
[11]	Zeidler M,Sellar RJ,Collie DA, et al. The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jakob disease[J]. Lancet, 2000,355(9213):1412-1418.
[12]	Manners DN,Parchi P,Tonon C, et al. Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease[J]. Neurology, 2009,72(16):1425-1431.
[13]	Vitali P,Maccagnano E,Caverzasi E, et al. Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias[J]. Neurology,2011,76(20):1711-1719.
[14]	Sanchezjuan P,Green A,Ladogana A, et al. CSF tests in the differential diagnosis of Creutzfeldt-Jakob disease[J]. Neurology,2006,67(4):637-643.
[15]	Hamlin C,Puoti G,Berri S, et al. A comparison of tau and 14-3-3 protein in the diagnosis of Creutzfeldt-Jakob disease[J]. Neurology,2012,79(6):547- 552.
[16]	Fukushima R,Shiga Y,Nakamura M, et al. MRI characteristics of sporadic CJD with valine homozygosity at codon 129 of the prion protein gene and PrPSc type 2 in Japan[J]. J Neurol Neurosurg Psychiatry,2004,75(3):485-487.
[17]	Zanusso G,Monaco S,Pocchiari M, et al. Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease[J]. Nat Rev Neurol,2016,12(6):325-333.
[18]	Paul B. A new standard for the laboratory diagnosis of sporadic Creutzfeldt-Jakob disease[J]. JAMA Neurology,2017,74(2):144-145.
[19]	Ena J. Prions: Who should worry about them?[J]. Arch Med Res,2005,36(6):622-627.
[20]	Paterson RW,Torreschae CC,Kuo AL, et al. Differential diagnosis of Jakob-Creutzfeldt disease[J]. Arch Neurol,2012,69(12):1578-1582.
[21]	Aguzzi A,Lakkaraju AKK,Frontzek K. Toward therapy of human prion diseases[J]. Annu Rev Pharmacol Toxicol,2018,58:331-351.

诊断标准	具体内容
临床表现	?
?	进展性痴呆
?	小脑或视觉症状
?	锥体或锥体外系症状
?	无动性缄默
辅助检查	?
?	脑电图表现为尖慢复合波（periodic sharp wave complexes，PSWCs）
?	脑脊液中14-3-3蛋白阳性（病程< 2年）
?	在DWI或FLAIR序列中尾状核、壳核或至少两个皮层区域（颞-项-枕叶）异常高信号

诊断标准	具体内容
临床表现	?
?	进展性痴呆
?	小脑或视觉症状
?	锥体或锥体外系症状
?	无动性缄默
辅助检查	?
?	脑电图表现为尖慢复合波（periodic sharp wave complexes，PSWCs）
?	脑脊液中14-3-3蛋白阳性（病程< 2年）
?	在DWI或FLAIR序列中尾状核、壳核或至少两个皮层区域（颞-项-枕叶）异常高信号

病例编号	性别	年龄	临床表现	RPD	肌阵挛	锥体束征	幻觉	小脑体征
1	男	66	发现颅内异常信号10个月，行走不稳3个月，言语欠清、记忆力下降2个月	有	无	有	有	有
2	女	75	进行性认知功能减退、行走不稳1月	有	无	有	无	有
3	男	75	记忆力下降2个月，进行性加重伴肢体功能障碍1个月	有	有	无	无	不能配合
4	男	57	进行性智能减退伴幻觉2个月	有	无	无	有	不能配合
5	女	54	头晕智能减退2个月余间断肢体抽动意识障碍15 d	有	有	无	无	不能配合
6	女	78	四肢不自主抖动50余天，认知功能下降10余天	有	有	有	有	有
7	女	46	视物模糊、变形4个月，神志异常1个月	有	有	无	有	不能配合
8	女	65	反应迟钝2个半月，意识不清2个月	有	有	无	无	不能配合

病例编号	性别	年龄	临床表现	RPD	肌阵挛	锥体束征	幻觉	小脑体征
1	男	66	发现颅内异常信号10个月，行走不稳3个月，言语欠清、记忆力下降2个月	有	无	有	有	有
2	女	75	进行性认知功能减退、行走不稳1月	有	无	有	无	有
3	男	75	记忆力下降2个月，进行性加重伴肢体功能障碍1个月	有	有	无	无	不能配合
4	男	57	进行性智能减退伴幻觉2个月	有	无	无	有	不能配合
5	女	54	头晕智能减退2个月余间断肢体抽动意识障碍15 d	有	有	无	无	不能配合
6	女	78	四肢不自主抖动50余天，认知功能下降10余天	有	有	有	有	有
7	女	46	视物模糊、变形4个月，神志异常1个月	有	有	无	有	不能配合
8	女	65	反应迟钝2个半月，意识不清2个月	有	有	无	无	不能配合

病例编号	影像学表现	脑电图	14-3-3蛋白
1	双侧额、顶、枕叶及左颞叶可见沿脑沟分布DWI明显高信号	三相波	阳性
2	双侧大脑皮层内多发病灶；符合炎性病变。左侧基底节区陈旧软化灶	中-重度异常脑电图（左侧显著）。可见2-3Hz高幅尖慢复合波间断散发于各导联，左侧显著	阳性
3	脑回萎缩，DWI示脑回及基底节区可见稍高信号改变	无异常	阳性
4	DWI像上豆状核、尾状核及脑皮质信号增高	三相波	未查
5	双侧尾状核及右侧豆状核T2WI信号增高：代谢脑病？双侧大脑半球皮层DWI信号不对称	全导类周期性慢波，癫痫样异常放电	阳性
6	大脑皮层异常信号，CJD可能	重度异常脑电图。双侧可见大量低中幅广泛性周期性双向波三相波发放，背景节律慢	阳性
7	双侧大脑皮层及基底节区信号异常，考虑感染病变。右侧额叶斑片样缺血灶	未做	阳性
8	双侧大脑皮层及颅内多发异常信号，考虑代谢性脑病可能，需结合临床	未做	未查

Please choose a citation manager

Content to export