Martin Sarah, Strzelczyk Adam, Lindlar Silvia, Krause Kristina, Reif Philipp S, Menzler Katja, Chiocchetti Andreas G, Rosenow Felix, Knake Susanne, Klein Karl Martin
Center for Personalized Translational Epilepsy Research (CePTER), Frankfurt am Main, Germany.
Epilepsy Center Hessen, Department of Neurology, Philipps University Marburg, Marburg, Germany.
Front Neurol. 2019 Sep 10;10:946. doi: 10.3389/fneur.2019.00946. eCollection 2019.
Juvenile myoclonic epilepsy (JME) is a common epilepsy syndrome characterized by bilateral myoclonic and tonic-clonic seizures typically starting in adolescence and responding well to medication. Misdiagnosis of a more severe progressive myoclonus epilepsy (PME) as JME has been suggested as a cause of drug-resistance. Medical records of the Epilepsy Center Hessen-Marburg between 2005 and 2014 were automatically selected using keywords and manually reviewed regarding the presence of a JME diagnosis at any timepoint. The identified patients were evaluated regarding seizure outcome and drug resistance according to ILAE criteria. 87/168 identified JME patients were seizure-free at last follow-up including 61 drug-responsive patients (group NDR). Seventy-eight patients were not seizure-free including 26 drug-resistant patients (group DR). Valproate was the most efficacious AED. The JME diagnosis was revised in 7 patients of group DR including 6 in whom the diagnosis had already been questioned or revised during clinical follow-up. One of these was finally diagnosed with PME (genetically confirmed Lafora disease) based on genetic testing. She was initially reviewed at age 29 yrs and considered to be inconsistent with PME. Intellectual disability ( = 0.025), cognitive impairment ( < 0.001), febrile seizures in first-degree relatives ( = 0.023) and prominent dialeptic seizures ( = 0.009) where significantly more frequent in group DR. Individuals with PME are rarely found among drug-resistant alleged JME patients in a tertiary epilepsy center. Even a very detailed review by experienced epileptologists may not identify the presence of PME before the typical features evolve underpinning the need for early genetic testing in drug-resistant JME patients.
青少年肌阵挛癫痫（JME）是一种常见的癫痫综合征，其特征为双侧肌阵挛和强直-阵挛发作，通常始于青春期，对药物治疗反应良好。有人提出，将更严重的进行性肌阵挛癫痫（PME）误诊为JME是导致耐药的原因之一。使用关键词自动筛选了2005年至2014年间黑森-马尔堡癫痫中心的病历，并人工检查了在任何时间点是否存在JME诊断。根据国际抗癫痫联盟（ILAE）标准，对确诊患者的癫痫发作结果和耐药情况进行了评估。在最后一次随访时，168例确诊为JME的患者中有87例无癫痫发作，其中包括61例药物反应性患者（NDR组）。78例患者仍有癫痫发作，其中包括26例耐药患者（DR组）。丙戊酸盐是最有效的抗癫痫药物（AED）。DR组中有7例患者的JME诊断被修订，其中6例在临床随访期间其诊断就已受到质疑或修订。其中1例最终经基因检测确诊为PME（基因确诊为拉福拉病）。她最初在29岁时接受检查，当时认为不符合PME的诊断。在DR组中，智力残疾（P = 0.025）、认知障碍（P < 0.001）、一级亲属中有热性惊厥（P = 0.023）以及明显的失神发作（P = 0.009）更为常见。在三级癫痫中心的耐药疑似JME患者中，很少发现PME患者。即使是经验丰富的癫痫专家进行非常详细的检查，在典型特征出现之前也可能无法识别PME的存在，这突出了对耐药JME患者进行早期基因检测的必要性。
