Wakamoto Hiroyuki
Department of Pediatrics, Ehime Prefecture Central Hospital, Matsuyama City, Japan.
J Child Neurol. 2008 Jan;23(1):102-5. doi: 10.1177/0883073807309792. Epub 2007 Dec 13.
Both genetic and acquired factors play important roles in the development of childhood absence epilepsy. This article describes a girl with mental retardation, probably due to a perinatal complication, who had typical absence seizures with characteristic electroencephalographic findings of childhood absence epilepsy, including normal background activity. This patient was subsequently found to have a strong genetic predisposition, which was suggested by the fact that childhood absence epilepsy also developed in her younger brother. Except for the mental subnormality, the electroclinical features of this patient satisfied the diagnostic criteria for childhood absence epilepsy. This case raises the question about diagnostic consideration of childhood absence epilepsy in association with cerebral pathology for genetically predisposed individuals.
遗传因素和后天因素在儿童失神癫痫的发病过程中均起重要作用。本文描述了一名可能因围产期并发症导致智力发育迟缓的女孩,她患有典型的失神发作,并具有儿童失神癫痫的特征性脑电图表现,包括正常的背景活动。随后发现该患者有很强的遗传易感性,因为她的弟弟也患了儿童失神癫痫。除智力发育不全外,该患者的电临床特征符合儿童失神癫痫的诊断标准。该病例引发了对于具有遗传易感性的个体,在伴有脑部病变时诊断儿童失神癫痫的思考。