Kaczorowska Magdalena, Kmiec Tomasz, Jakobs Cornelis, Kacinski Marek, Kroczka Slawomir, Salomons Gajja S, Struys Eduard A, Jozwiak Sergiusz
Department of Child Neurology, The Children's Memorial Health Institute, Warsaw, Poland.
J Child Neurol. 2008 Dec;23(12):1455-9. doi: 10.1177/0883073808318543. Epub 2008 Oct 14.
Pyridoxine-dependent seizures are a rare condition recognized when numerous seizures respond to pyridoxine treatment and recur on pyridoxine withdrawal. For decades the diagnosis was confirmed only with pyridoxine treatment withdrawal trial. Recently described biochemical and molecular pathology improved the diagnostic process for those cases in which seizures are caused by alpha amino adipic semialdehyde dehydrogenase deficiency. This article presents a girl with recurrent status epilepticus episodes resistant to phenobarbital and phenytoin and partly responding to midazolam. Eventually the seizures were completely controlled with pyridoxine; however, due to the severe condition of this child when seizing, no trial of withdrawal has been performed. The diagnosis of pyridoxine-dependent seizures was confirmed with biochemical and molecular testing revealing elevated alpha-AASA excretion and the presence of 2 different mutations in the antiquitin ( ALDH7A1) gene. Due to the availability of reliable laboratory testing, confirmation of the diagnosis was made without the life-threatening trial of pyridoxine withdrawal.
维生素B6依赖型癫痫是一种罕见病症，当大量癫痫发作对维生素B6治疗有反应且在停用维生素B6后复发时可被识别。几十年来，仅通过维生素B6治疗撤药试验来确诊。最近描述的生化和分子病理学改善了那些由α-氨基己二酸半醛脱氢酶缺乏引起癫痫发作病例的诊断过程。本文介绍了一名患有复发性癫痫持续状态的女孩，其对苯巴比妥和苯妥英耐药，对咪达唑仑部分有反应。最终，癫痫发作通过维生素B6得到完全控制；然而，由于该患儿癫痫发作时病情严重，未进行撤药试验。通过生化和分子检测证实了维生素B6依赖型癫痫的诊断，检测显示α-AASA排泄升高且抗喹啉（ALDH7A1）基因存在2种不同突变。由于有可靠的实验室检测方法，无需进行危及生命的维生素B6撤药试验即可确诊。
