Pediatric Neurology Department and Center of Reference for Rare Intellectual Disorders, Tuberous Sclerosis and Rare Epileptic Disorders, University Hospitals of Lyon (HCL), Lyon, France.
Eur J Paediatr Neurol. 2013 Nov;17(6):676-80. doi: 10.1016/j.ejpn.2013.06.005. Epub 2013 Jul 31.
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. A delay of treatment may affect outcome and early initiation of pyridoxine based on effective diagnosis is crucial to ensure good cognitive outcome in neonates. A consensus for the diagnosis of PDE is based on refractive seizures and responsiveness to pyridoxine, however, a growing body of evidence suggests that additional elements should be considered which include biochemical data, genetic screening, and EEG monitoring. We present a case study of a neonate with PDE, who presented with misleading clinical presentation and a novel mutation in the antiquitin (ALDH7A1) gene (A294V), and highlight important aspects in order to consider the definition of diagnosis and management of PDE in the light of more recent data.
吡哆醇依赖性癫痫（PDE）是一种罕见的常染色体隐性代谢疾病。治疗的延迟可能会影响结果，并且基于有效诊断尽早开始使用吡哆醇对于确保新生儿的良好认知结果至关重要。PDE 的诊断共识基于反射性癫痫发作和对吡哆醇的反应性，但是，越来越多的证据表明，应该考虑其他因素，包括生化数据、基因筛查和 EEG 监测。我们报告了一例 PDE 新生儿病例，该病例表现出误导性的临床表现和抗霉素（ALDH7A1）基因（A294V）的新突变，并强调了重要方面，以便根据最新数据考虑 PDE 的诊断和治疗定义。
