Department of Neurology, Monash Medical Centre, Clayton, Melbourne, Australia.
Middlemore Hospital, Auckland, New Zealand.
J Clin Neurosci. 2021 Apr;86:301-309. doi: 10.1016/j.jocn.2020.10.002. Epub 2021 Jan 9.
The Heidenhain variant of Creutzfeld-Jakob disease (HvCJD) is a relentlessly progressive and fatal neurodegenerative disorder characterised by prominent visual features early in its clinical course. However, seizures are uncommonly reported in HvCJD. The case history of a patient admitted to our institution with HvCJD and seizures is described followed by a systematic review of the association between HvCJD and seizures. A systematic search of the databases Medline, PubMed, and PsycInfo was conducted, from inception to November 2019, using keywords relating to 'Creutzfeldt-Jakob disease' and 'Heidenhain variant', to ascertain the frequency of seizures in HvCJD, as well as, seizure semiology and electrographic features. The Preferred Items Reporting for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed in the construction of this systematic review. All studies, including case reports of patients who met the diagnostic criteria for HvCJD where details pertaining to clinical presentation, imaging, biochemical and EEG findings were available were included. There were 46 articles reporting on a total of 73 patients. Seizures occurred in only four out of 73 cases (5.5%). The semiology of these seizures were focal motor seizures with or without secondary generalisation and occipital lobe seizures. Imaging and electrographic findings were most commonly abnormal in the posterior cerebral cortices (in particular the occipital and occipito-parietal regions). This systematic review suggests that seizures are uncommon in HvCJD despite the frequency of imaging and electrographic abnormalities in the posterior cerebral regions. A key limitation of this systematic review is the variability of publications in terms of incomplete reporting of clinical data, in particular potential under-reporting of seizures, as well as follow up, which may have contributed to the lower frequency of seizures reported in patients with HvCJD.
海登海因氏变异型克雅氏病（HvCJD）是一种进行性和致命性神经退行性疾病，其临床过程早期以突出的视觉特征为特征。然而，在 HvCJD 中，癫痫发作并不常见。本文描述了一名因 HvCJD 和癫痫发作而入院的患者的病史，并对 HvCJD 与癫痫发作之间的关联进行了系统回顾。对 Medline、PubMed 和 PsycInfo 数据库进行了系统搜索，从建库开始到 2019 年 11 月，使用与“克雅氏病”和“海登海因氏变异型”相关的关键词，以确定 HvCJD 中癫痫发作的频率，以及癫痫发作的症状学和脑电图特征。在构建本系统综述时，遵循了系统评价和荟萃分析的首选项目报告（PRISMA）指南。所有研究，包括符合 HvCJD 诊断标准的患者的病例报告，其中详细描述了临床表现、影像学、生化和脑电图结果，均包括在内。共有 46 篇文章报道了 73 例患者。73 例患者中只有 4 例（5.5%）出现癫痫发作。这些癫痫发作的症状学表现为局灶性运动性癫痫发作，伴有或不伴有继发性全面性发作，以及枕叶癫痫发作。影像学和脑电图异常最常见于大脑后皮质（特别是枕叶和枕顶叶区域）。本系统综述表明，尽管在大脑后区的影像学和脑电图异常频率较高，但在 HvCJD 中癫痫发作并不常见。本系统综述的一个主要局限性是出版物在临床数据报告方面存在差异，特别是癫痫发作的潜在漏报，以及随访情况，这可能导致报告的 HvCJD 患者癫痫发作频率较低。
