Attaripour Isfahani Sanaz, Dougherty Michelle, Gliebus Gediminas Peter
Drexel Neurosciences Institute, Drexel University College of Medicine, Philadelphia, PA, USA.
SAGE Open Med Case Rep. 2017 Dec 11;5:2050313X17744482. doi: 10.1177/2050313X17744482. eCollection 2017.
Creutzfeldt-Jakob disease accounts for more than 90% of all sporadic prion disease cases. The molecular MM2 genotype has been divided into cortical and thalamic subtypes based on structures involved and is characterized clinically by progressive dementia without ataxia or typical electroencephalography changes. Proposed diagnostic criteria for MM2 cortical type sporadic Creutzfeldt-Jakob disease include progressive dementia, cortical hyper-intensity on diffusion-weighted magnetic resonance imaging, increased cerebrospinal fluid 14-3-3 protein level, and the exclusion of other types of dementia. The presence of periodic discharges on electroencephalography in MM2 cortical type were reported in 42% of the cases. We are reporting a case of sporadic Creutzfeldt-Jakob disease cortical MM2-type presenting with rapid cognitive decline, who survived 8 months since symptom onset. Brain imaging, cerebrospinal fluid analysis, and long-term electroencephalography monitoring were obtained and diagnosis was confirmed by autopsy. Short-term electroencephalography recording, performed 5 months after symptom onset, demonstrated diffuse background slowing without epileptiform activity. Long-term video electroencephalography monitoring demonstrated generalized slowing, maximum in bilateral frontal areas, which intermittently would become rhythmic (1-2 Hz) without hemispheric predominance. If the findings do not clearly meet the proposed clinical criteria for sporadic Creutzfeldt-Jakob disease, the use of long-term electroencephalography could increase the sensitivity. We question whether the lack of the characteristic findings on electroencephalography in some cases could be due to insufficient time of recording. Application of long-term electroencephalography monitoring increases the sensitivity of electroencephalography and the certainty of pre-mortem diagnosis of sporadic Creutzfeldt-Jakob disease.
克雅氏病占所有散发性朊病毒病病例的90%以上。分子MM2基因型已根据受累结构分为皮质型和丘脑型亚型，其临床特征为进行性痴呆，无共济失调或典型的脑电图改变。MM2皮质型散发性克雅氏病的拟诊标准包括进行性痴呆、扩散加权磁共振成像上的皮质高信号、脑脊液14-3-3蛋白水平升高以及排除其他类型的痴呆。42%的MM2皮质型病例报告脑电图出现周期性放电。我们报告一例以快速认知衰退为表现的散发性克雅氏病皮质MM2型病例，该患者自症状出现后存活了8个月。进行了脑成像、脑脊液分析和长期脑电图监测，并通过尸检确诊。症状出现5个月后进行的短期脑电图记录显示弥漫性背景减慢，无癫痫样活动。长期视频脑电图监测显示广泛性减慢，以双侧额叶最为明显，间歇性地会变为节律性（1-2Hz），无半球优势。如果这些发现未明确符合散发性克雅氏病的拟诊临床标准，使用长期脑电图检查可能会提高敏感性。我们质疑某些病例脑电图缺乏特征性表现是否可能是由于记录时间不足所致。应用长期脑电图监测可提高脑电图的敏感性以及散发性克雅氏病生前诊断的确定性。
