Pardal-Fernández J M, Carrascosa-Romero M C, Rodríguez-Vázquez M, Marco-Giner J, Martínez-Gutiérrez A
Servicio de Neurofisiología, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.
Rev Neurol. 2006;42(6):336-40.
Embryogenetic disorders are one of the most serious problems in the life of an epileptic. Over the last few decades many antiepileptic drugs, including valproic acid, have been shown to have teratogenic properties. Embryopathy due to valproate, also known as fetal valproate syndrome, is a well-known and documented example of these conditions.
We report the case of a preterm newborn infant who, at birth, exhibited a syndrome characterised by facial dysmorphia, gingival hyperplasia, neurological hyperexcitability and multiple malformations, the most striking of which was the presence of predominantly temporal atrophy in the left brain hemisphere. The most significant event in the medical history of the case was the mother's taking valproate in monotherapy throughout the entire period of gestation as treatment for generalised idiopathic epilepsy that was diagnosed during adolescence. Screening precluded the most common metabolic, hereditary or infectious causes that can cause embryopathies.
The mother's history of taking valproic acid and the specific findings that coincided in the peculiar embryopathy of this patient enabled us to link them.
胚胎发育障碍是癫痫患者生活中最严重的问题之一。在过去几十年里，许多抗癫痫药物，包括丙戊酸，已被证明具有致畸特性。丙戊酸盐所致的胚胎病，也称为胎儿丙戊酸盐综合征，就是这些情况中一个广为人知且有文献记载的例子。
我们报告一例早产新生儿病例，该婴儿出生时表现出一种综合征，其特征为面部畸形、牙龈增生、神经兴奋性增高和多处畸形，其中最显著的是左脑半球主要出现颞叶萎缩。该病例病史中最重大的事件是母亲在整个妊娠期采用丙戊酸单药治疗，作为青春期诊断的全身性特发性癫痫的治疗方法。筛查排除了可导致胚胎病的最常见代谢、遗传或感染性病因。
母亲服用丙戊酸的病史以及该患者特殊胚胎病中出现的特定发现使我们能够将二者联系起来。
