Oguni Hirokazu
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Epilepsia. 2005;46 Suppl 9:84-90. doi: 10.1111/j.1528-1167.2005.00318.x.
The diagnosis of idiopathic generalized epilepsies (IGEs) is not generally difficult if one follows the clinical and electroencephalogram (EEG) definitions of each subsyndrome that constitutes IGEs. In contrast, symptomatic epilepsies develop based on organic brain lesions and are easily diagnosed by the presence of developmental delay, neurologic abnormalities, and a characteristic seizure and EEG pattern. However, in clinical practice, it is sometimes difficult to differentiate IGEs from symptomatic epilepsies, especially when the clinical course from the onset of epilepsy is too short to exhibit typical clinical and EEG findings of either epilepsy type, or when patients with symptomatic epilepsies have atypical features that imitate the clinical characteristics of IGEs. The neurodegenerative or metabolic disorders at times start during the clinical course with epileptic seizures and later show typical neurologic abnormalities. The newly recognized metabolic disorder of glucose transporter type 1 deficiency syndrome (Glut-1 DS) may start with myoclonic seizures at an age of less than 1 year and imitate benign myoclonic epilepsy in infancy early in the clinical course. Progressive myoclonus epilepsies (PMEs) that develop at 1-4 years of age at times imitate epilepsy with myoclonic-astatic seizures with respect to the presence of astatic seizures and an epileptic encephalopathic EEG pattern. In addition, young children with focal cortical dysplasia may also have similar clinical and EEG patterns, although the latter may become localized after treatment. Approximately 15% of patients with juvenile myoclonic epilepsy (JME) are resistant to antiepileptic drugs (AEDs) and may require extensive study to make a differential diagnosis from symptomatic epilepsies. PMEs that develop during adolescence may imitate JME early in the clinical course; however, a detailed history and the differentiation between myoclonic seizures and myoclonus would help to distinguish both conditions. The diagnosis of IGEs is very demanding for patients with atypical features with regard to seizure type, EEG findings, and response to appropriate AEDs.
如果遵循构成特发性全身性癫痫（IGEs）的每种亚综合征的临床和脑电图（EEG）定义，IGEs的诊断通常并不困难。相比之下，症状性癫痫是基于器质性脑损伤而发生的，并且通过发育迟缓、神经学异常以及特征性的癫痫发作和EEG模式很容易诊断出来。然而，在临床实践中，有时很难将IGEs与症状性癫痫区分开来，特别是当癫痫发作开始后的临床病程太短，以至于无法表现出任何一种癫痫类型的典型临床和EEG表现时，或者当症状性癫痫患者具有模仿IGEs临床特征的非典型特征时。神经退行性或代谢性疾病有时在临床病程中以癫痫发作开始，随后出现典型的神经学异常。新认识的葡萄糖转运体1缺乏综合征（Glut-1 DS）这种代谢性疾病可能在1岁以内以肌阵挛发作开始，在临床病程早期模仿婴儿良性肌阵挛癫痫。1至4岁时发生的进行性肌阵挛癫痫（PMEs）有时在有无张力发作和癫痫性脑病EEG模式方面模仿伴有肌阵挛-无张力发作的癫痫。此外，局灶性皮质发育不良的幼儿也可能有类似的临床和EEG模式，尽管后者在治疗后可能会局限化。大约15%的青少年肌阵挛癫痫（JME）患者对抗癫痫药物（AEDs）耐药，可能需要进行广泛的研究以与症状性癫痫进行鉴别诊断。青春期发生的PMEs在临床病程早期可能模仿JME；然而，详细的病史以及肌阵挛发作和肌阵挛之间的鉴别有助于区分这两种情况。对于在癫痫发作类型、EEG表现以及对适当AEDs的反应方面具有非典型特征的患者，IGEs的诊断要求很高。
