Department of Neurology, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Spain.
Department of Pathology, Bioaraba Health Research Institute, Araba University Hospital-Txagorritxu, Vitoria-Gasteiz, Spain.
Eur J Neurol. 2021 Sep;28(9):2901-2906. doi: 10.1111/ene.14946. Epub 2021 Jun 26.
Sporadic Creutzfeldt-Jakob disease is a rapidly progressing and highly variable neurodegenerative disease with heterogeneous clinical presentation and a median survival time from diagnosis to death of 4-6 months.
We report a rare case of a 61-year-old woman with a history of initially rapidly progressive dementia, with subsequent development of pyramidal and extrapyramidal signs and with an unusually long survival period of 14 years. Initial magnetic resonance imaging evaluation, single-photon emission computed tomography, and electroencephalogram did not show relevant alterations.
The postmortem examination of the brain showed diffuse spongiform change, gliosis, and neuronal loss along with abnormal immunostaining of prion protein in the grey matter, especially in the cerebellum. Indirect PRNP genetic analysis was negative.
This case is, to our knowledge, the sporadic Creutzfeldt-Jakob disease patient with the longest survival period ever documented. This surprisingly long duration highlights the importance of histopathological confirmation with brain autopsies for suspected cases, as the disease can easily be misdiagnosed in such slowly progressing cases.
散发性克雅氏病是一种快速进展且高度多变的神经退行性疾病，临床表现异质性，从诊断到死亡的中位生存时间为 4-6 个月。
我们报告了一例罕见的 61 岁女性病例，最初表现为迅速进展性痴呆，随后出现锥体外系和锥体系体征，且生存时间异常长，为 14 年。初始磁共振成像评估、单光子发射计算机断层扫描和脑电图均未显示相关改变。
大脑的尸检显示弥漫性海绵状改变、神经胶质增生和神经元丢失，以及灰质中朊病毒蛋白的异常免疫染色，特别是在小脑。间接 PRNP 基因分析为阴性。
据我们所知，本例是散发性克雅氏病患者中生存时间最长的病例。如此长的持续时间突出了对疑似病例进行脑尸检进行组织病理学确认的重要性，因为在这种进展缓慢的病例中，疾病很容易被误诊。
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