Takahashi Y, Suzuki Y, Kumazaki K, Tanabe Y, Akaboshi S, Miura K, Shimozawa N, Kondo N, Nishiguchi T, Terada K, Orii T
Department of Pediatrics, Gifu University School of Medicine, Japan.
Epilepsia. 1997 Feb;38(2):182-8. doi: 10.1111/j.1528-1157.1997.tb01095.x.
To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases.
Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with neonatal adrenoleukodystrophy (NALD), two with acyl-CoA oxidase deficiency (AOXD), two with bifunctional enzyme deficiency (BFED), and one with rhizomelic chondrodysplasia punctata (RCDP). The diagnoses were made by biochemical analysis and pathological examinations in our laboratory.
Patients manifested serious neurologic deficits in the neonatal period or in early or late infancy. Patients with ZS or AOXD had partial motor seizures originating in the arms or legs or corners of the mouth. Their seizures did not culminate in generalized tonic-clonic seizures and were easily controlled by antiepileptic drugs (AEDs). Interictal EEGs of the patients with ZS showed infrequent bilateral independent multifocal spikes, predominantly in the frontal motor cortex and its surrounding regions. The EEGs of patients with AOXD showed interictal fast theta activity, predominantly in the frontocentral regions. Patients with BFED also had partial motor seizures in early infancy, but the seizures were intractable, evolving in one case to myoclonic seizures. Interictal EEGs of patients with BFED showed bilateral independent multifocal spikes that evolved to bilateral diffuse high-voltage slow waves in one case and to a hypsarythmic pattern in another case as the disease progressed. Patients with NALD had intractable tonic seizures or epileptic spasms. Interictal EEGs showed high-voltage slow waves and bilateral independent multifocal spikes, evolving in one patient to a flat pattern. The patient with RCDP, whose interictal EEGs showed frequent multifocal independent spikes, did not have epileptic seizures.
The age of epilepsy onset or the duration of survival is related to the types of seizures occurring in patients with peroxisomal diseases. Neonates or young infants usually have partial motor seizures (facial twitching or clonic convulsions of the arms or legs) of various multifocal origins. Older infants may have generalized seizures at the onset of the disease or evolutionally. Seizure intractability is usually less severe in patients with ZS or AOXD than in patients with NALD or BFED. There is no relation between the electroclinical characteristics of epilepsy and the genetic complementation groups in peroxisomal diseases.
阐明过氧化物酶体病患者癫痫发作的电临床表现及癫痫的演变过程。
回顾性分析14例过氧化物酶体病患者的病历和脑电图：7例为泽尔韦格综合征（ZS），2例为新生儿肾上腺脑白质营养不良（NALD），2例为酰基辅酶A氧化酶缺乏症（AOXD），2例为双功能酶缺乏症（BFED），1例为肢根型点状软骨发育不良（RCDP）。诊断通过本实验室的生化分析和病理检查做出。
患者在新生儿期或婴儿早期或晚期出现严重的神经功能缺损。ZS或AOXD患者出现起源于手臂、腿部或嘴角的部分运动性发作。他们的发作未发展为全身强直阵挛性发作，且很容易被抗癫痫药物（AEDs）控制。ZS患者的发作间期脑电图显示双侧独立多灶性棘波少见，主要位于额叶运动皮层及其周围区域。AOXD患者的脑电图显示发作间期快θ活动，主要位于额中央区域。BFED患者在婴儿早期也有部分运动性发作，但发作难以控制，其中1例发展为肌阵挛发作。BFED患者的发作间期脑电图显示双侧独立多灶性棘波，随着疾病进展，1例演变为双侧弥漫性高电压慢波，另1例演变为高度失律模式。NALD患者有难以控制的强直发作或癫痫痉挛。发作间期脑电图显示高电压慢波和双侧独立多灶性棘波，1例患者演变为平坦模式。RCDP患者的发作间期脑电图显示频繁的多灶性独立棘波，但未出现癫痫发作。
癫痫发作的年龄或存活时间与过氧化物酶体病患者发生的癫痫发作类型有关。新生儿或婴儿通常有多种多灶起源的部分运动性发作（面部抽搐或手臂或腿部的阵挛性惊厥）。年龄较大的婴儿在疾病发作时或演变过程中可能出现全身性发作。ZS或AOXD患者的癫痫发作难治性通常比NALD或BFED患者轻。癫痫的电临床特征与过氧化物酶体病中的基因互补组之间没有关系。
