Dirzius Edgaras, Balnyte Renata, Steibliene Vesta, Gleizniene Rymante, Gudinaviciene Inga, Radziunas Andrius, Petrikonis Kestutis
Department of Psychiatry, Lithuanian University of Health Sciences, Mickeviciaus str. 9, Kaunas, LT-44307, Lithuania.
Department of Neurology Lithuanian University of Health Sciences, Mickeviciaus str. 9, Kaunas, LT-44307, Lithuania.
BMC Neurol. 2016 Nov 22;16(1):234. doi: 10.1186/s12883-016-0751-8.
Creutzfeldt - Jakob disease (CJD) is a rapidly progressive and fatal neurodegenerative prion disease. MRI findings are included in diagnostic criteria for probable CJD, giving a sensitivity and specificity more than 90%, but the atypical radiological presentations in the early stage of the disease could cause the diagnostic difficulties. CJD can be definitively diagnosed by histopathological confirmation, brain biopsy or at autopsy.
We present a case of 53-year-old woman with a history of a rapidly progressive dementia with symptoms of visual impairment, increased extrapyramidal type muscle tonus, stereotypical movements and ataxic gait resulting in the patient's death after13 months. The clinical symptoms deteriorated progressively to myoclonus and akinetic mutism already on the 14th week. The series of diagnostic examinations were done to exclude the possible causes of dementia. Initial MRI evaluation as posterior reversible encephalopathy syndrome (PRES) on the 9th week after the onset of symptoms created us a diagnostic conundrum. Subsequent MRI findings of symmetrical lesions in the basal ganglia (nucleus caudatus, putamen) on the 13th week and EEG with periodic sharp wave complexes (PSWC) in frontal regions on the 18th week allowed us to diagnose the probable sCJD. The histopathological findings after brain biopsy on the 14th week demonstrated the presence of the abnormal prion protein deposits in the grey matter by immunohistochemistry with ICSM35, KG9 and 12 F10 antibodies and confirmed the diagnosis of sCJD.
In this article we focus our attention on a rare association between radiological PRES syndrome and early clinical stage of sCJD. Although concurrent manifestation of these conditions can be accidental, but the immunogenic or neuropeptide mechanisms could explain such radiological MRI findings. A thorough knowledge of differential diagnostic of PRES may be especially useful in earlier diagnosis of sCJD.
克雅氏病（CJD）是一种快速进展的致命性神经退行性朊病毒病。MRI表现被纳入可能的CJD诊断标准，其敏感性和特异性超过90%，但疾病早期的非典型影像学表现可能导致诊断困难。CJD可通过组织病理学确认、脑活检或尸检明确诊断。
我们报告一例53岁女性，有快速进展性痴呆病史，伴有视力障碍、锥体外系型肌张力增加、刻板动作和共济失调步态等症状，13个月后患者死亡。临床症状在第14周时已逐渐恶化为肌阵挛和运动不能性缄默。进行了一系列诊断检查以排除痴呆的可能病因。症状出现后第9周的初始MRI评估显示为后部可逆性脑病综合征（PRES），这给我们带来了诊断难题。第13周时基底节（尾状核、壳核）对称病变的后续MRI表现以及第18周时额叶区域脑电图出现周期性锐波复合波（PSWC），使我们能够诊断可能的散发型CJD。第14周脑活检后的组织病理学结果通过使用ICSM35、KG9和12 F10抗体的免疫组织化学方法在灰质中显示出异常朊病毒蛋白沉积，从而确诊了散发型CJD。
在本文中，我们将注意力集中在放射学PRES综合征与散发型CJD早期临床阶段之间的罕见关联上。尽管这些情况的同时出现可能是偶然的，但免疫原性或神经肽机制可以解释这种放射学MRI表现。全面了解PRES的鉴别诊断对于散发型CJD的早期诊断可能特别有用。
