Department of Neurology, Yale School of Medicine, New Haven, CT.
Department of Neurology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC.
Neurologist. 2024 Jan 1;29(1):14-16. doi: 10.1097/NRL.0000000000000519.
Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative condition caused by prion proteins. Cortical and subcortical diffusion-weighted imaging restriction on magnetic resonance imaging (MRI) is associated with sCJD. Posterior reversible encephalopathy syndrome (PRES) results from impaired vessel autoregulation due to an identifiable trigger, which is associated with subcortical fluid-attenuated inversion recovery changes on MRI. We report a case of sCJD initially presenting with PRES.
A 70-year-old woman presented to an outside hospital with progressive confusion and difficulty in managing activities of daily living. Initial examination revealed stuporous mental state and stimulus-induced myoclonus. MRI revealed bilateral subcortical occipital lobe T2-fluid-attenuated inversion recovery hyperintensities without contrast enhancement suggestive of PRES. Electroencephalogram (EEG) revealed frequent generalized periodic discharges meeting criteria for nonconvulsive status epilepticus. Clinical examination and EEG did not improve despite escalating antiseizure medications. Initial lumbar puncture was unremarkable. She was transferred to our hospital with a presumptive diagnosis of PRES, although there was no clear trigger. Continuous EEG revealed ongoing generalized periodic discharges with myoclonic activity meeting criteria for myoclonic seizures that were refractory to multiple antiseizure medications. Repeat MRI showed resolution of PRES but revealed subtle diffuse cortical diffusion-weighted imaging restriction. Repeat lumbar puncture was performed and 14-3-3 and real-time quaking-induced conversion returned positive, confirming sCJD.
This case reports highlights that sCJD can present with neuroimaging consistent with PRES. The diagnosis of sCJD should be considered in patients with PRES who continue to show neurological decline despite optimal management and radiographic improvement of PRES on MRI. Further research is needed to identify a pathophysiological relationship between these clinical phenotypes.
散发性克雅氏病（sCJD）是一种由朊病毒蛋白引起的致命神经退行性疾病。磁共振成像（MRI）上皮质和皮质下弥散加权成像受限与 sCJD 相关。后部可逆性脑病综合征（PRES）是由于可识别的诱因导致血管自动调节受损引起的，其在 MRI 上表现为皮质下液体衰减反转恢复变化。我们报告了一例最初表现为 PRES 的 sCJD 病例。
一名 70 岁女性因进行性意识混乱和日常生活活动管理困难到一家外院就诊。初步检查发现患者处于昏迷状态，并有刺激诱导的肌阵挛。MRI 显示双侧皮质下枕叶 T2 液体衰减反转恢复高信号，无对比增强，提示 PRES。脑电图（EEG）显示频繁的全身性周期性放电，符合非惊厥性癫痫持续状态的标准。尽管抗癫痫药物逐渐升级，临床检查和 EEG 仍无改善。最初的腰椎穿刺未见异常。她因 PRES 的推定诊断被转至我们医院，尽管没有明确的诱因。连续 EEG 显示持续的全身性周期性放电伴肌阵挛活动，符合肌阵挛性癫痫的标准，且对多种抗癫痫药物均无反应。重复 MRI 显示 PRES 已缓解，但显示出细微的弥漫性皮质扩散加权成像受限。再次进行腰椎穿刺，14-3-3 和实时震颤诱导转化均呈阳性，确诊为 sCJD。
本病例报告强调，sCJD 可表现为与 PRES 一致的神经影像学表现。对于 PRES 患者，即使 PRES 在 MRI 上的放射学改善和最佳治疗后仍继续出现神经功能下降，应考虑 sCJD 的诊断。需要进一步研究以确定这些临床表型之间的病理生理关系。
