Mory Susana B, Guerreiro Carlos A M, Li Li M, Teixeira Ricardo A, Costa Alberto L C, Cardoso Tânia A M, Cendes Fernando
Departamento de Neurologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.
Arq Neuropsiquiatr. 2002 Sep;60(3-B):788-96.
Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25 patients: 22 (88%) with JME, one with juvenile absence, one with perioral myoclonia with absences, one with eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients or misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not recognizing JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clinical constellation are essential for a correct seizure classification and diagnosis of IGE in adults.
特发性全身性癫痫（IGE）常常未被识别，给患者带来严重后果。我们对41名在我们癫痫门诊就诊、诊断为部分性癫痫的成年人进行了检查，这些患者的症状学或脑电图结果提示可能存在鉴别诊断，以探究导致IGE漏诊的因素。经过仔细重新评估，25例患者确诊为IGE：22例（88%）为青少年肌阵挛癫痫（JME），1例为青少年失神癫痫，1例为口周肌阵挛伴失神发作，1例为眼睑肌阵挛伴典型失神发作。肌阵挛抽搐是JME和其他IGE的标志，患者通常未报告，或被误诊为局灶性运动性发作。短暂且不频繁的失神发作和局灶性脑电图异常是导致未识别出JME的其他因素。所有25例患者在重新评估诊断前均未实现癫痫控制。在对IGE进行适当诊断并将抗癫痫药物（AED）更换为丙戊酸盐或丙戊酸后，19例（76%）癫痫发作停止，6例（24%）癫痫控制有显著改善。其中3例患者联合使用拉莫三嗪后进一步改善。进行适当询问以识别肌阵挛和失神发作，并结合整个临床情况进行正确解读，对于正确进行癫痫发作分类和诊断成人IGE至关重要。
