Nicolai Joost, van Kranen-Mastenbroek Vivianne H J M, Wevers Ron A, Hurkx Wilfred A P T, Vles Johan S H
Department of Neurology University Hospital Maastricht, Maastricht, The Netherlands.
Pediatr Neurol. 2006 Feb;34(2):164-7. doi: 10.1016/j.pediatrneurol.2005.08.019.
This report presents a male who developed clonic seizures on the day he was born. The next day, the diagnosis of pyridoxine-dependent seizures was made. However, contradictory to this diagnosis, seizures reappeared despite treatment with pyridoxine. Seizures ceased after folinic acid was initiated. The clinical and biochemical characteristics of folinic acid-responsive seizures are reviewed. Treatment with folinic acid should be considered in neonatal seizures of unknown origin that do not respond to pyridoxine, or manifest a transient response to pyridoxine.
本报告介绍了一名男性,他在出生当天出现阵挛性癫痫发作。第二天,诊断为维生素B6依赖型癫痫发作。然而,与该诊断相矛盾的是,尽管使用了维生素B6进行治疗,癫痫发作仍再次出现。在开始使用亚叶酸后癫痫发作停止。本文回顾了亚叶酸反应性癫痫发作的临床和生化特征。对于病因不明且对维生素B6无反应或对维生素B6表现出短暂反应的新生儿癫痫发作,应考虑使用亚叶酸进行治疗。