Brigo Francesco, Tavernelli Veronica, Nardone Raffaele, Trinka Eugen
Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Division of Neurology, Franz Tappeiner Hospital, Merano, Italy.
Division of Neurology, Franz Tappeiner Hospital, Merano, Italy.
Epileptic Disord. 2018 Apr 1;20(2):123-131. doi: 10.1684/epd.2018.0961.
Idiopathic (genetic) generalized epilepsies (IGEs) are age-related epileptic syndromes with typical age onset in childhood or adolescence. We report a patient with de novo late-onset absence status epilepticus (ASE) occurring at the age of 64 years, with clinical and EEG features suggestive of late-onset IGE. We also discuss the relationship between de novo late-onset ASE and late-onset IGE, and provide a comprehensive and critical review of the available literature on late-onset (i.e. onset ≥60 years) IGE. MEDLINE (1966-2016 [23 April]) was systematically searched in order to identify reports of patients with late-onset IGE. Grey literature was also comprehensively searched. We identified nine patients with electroclinical features suggestive of late-onset IGE. Median age at seizure onset was 71 years (range: 60-80), with a female prevalence (67%). A family history of epilepsy was reported in 67% of cases. All patients had generalized tonic-clonic seizures, and 44% also had myoclonic seizures. Treatment and outcome were reported for six patients; all of whom reached seizure freedom under monotherapy with valproic acid (83%) or lamotrigine (17%) (range of follow-up: 3 to 24 months). Late-onset IGE are entities with unknown prevalence and incidence, and should be differentiated on the basis of late-onset reactivation of previous IGE. Late-onset IGEs are probably unrecognized or misdiagnosed, based on a common misconception that all elderly individuals with first-ever seizures have focal symptomatic epilepsy. Late-onset IGE should be actively investigated by accurate history taking aimed at identifying seizures, which may have been unnoticed, and familial antecedents of epilepsy. In elderly patients presenting with de novo late-onset ASE, a diagnosis of late-onset IGE should be considered in the differential diagnosis, particularly in atypical cases (e.g. absence of triggering factors, coexistence of generalized tonic-clonic or myoclonic seizures, and interictal generalized epileptiform discharges).
特发性（遗传性）全身性癫痫（IGEs）是与年龄相关的癫痫综合征，典型发病年龄在儿童期或青少年期。我们报告了一名64岁出现新发迟发性失神癫痫持续状态（ASE）的患者，其临床和脑电图特征提示为迟发性IGE。我们还讨论了新发迟发性ASE与迟发性IGE之间的关系，并对关于迟发性（即发病年龄≥60岁）IGE的现有文献进行了全面而批判性的综述。为了识别迟发性IGE患者的报告，我们系统检索了MEDLINE（1966年 - 2016年[4月23日]）。还全面检索了灰色文献。我们确定了9例具有提示迟发性IGE的电临床特征的患者。癫痫发作起始的中位年龄为71岁（范围：60 - 80岁），女性患病率为67%。67%的病例报告有癫痫家族史。所有患者均有全身强直 - 阵挛发作，44%的患者还有肌阵挛发作。报告了6例患者的治疗情况和结局；所有患者在使用丙戊酸（83%）或拉莫三嗪（17%）单药治疗下均达到无癫痫发作状态（随访范围：3至24个月）。迟发性IGE的患病率和发病率未知，应根据既往IGE的迟发性再激活进行鉴别。基于一种常见的误解，即所有首次发作的老年个体都患有局灶性症状性癫痫，迟发性IGE可能未被认识或误诊。应通过准确的病史采集积极调查迟发性IGE，旨在识别可能未被注意到的发作以及癫痫的家族史。在出现新发迟发性ASE的老年患者中，鉴别诊断时应考虑迟发性IGE的诊断，特别是在非典型病例中（例如无触发因素、存在全身强直 - 阵挛或肌阵挛发作以及发作间期全身性癫痫样放电）。
