吡哆醇
医学
癫痫
癫痫持续状态
脑病
耐火材料(行星科学)
儿科
脑电图
突发抑制
内科学
麻醉
内分泌学
生物
精神科
天体生物学
作者
Olivier Fortin,Kelsey Christoffel,Youssef A. Kousa,Ilana Miller,Eyby Leon,Kelsey G. Donoho,Sarah B. Mulkey,Tayyba Anwar
出处
期刊:Neurology
[Ovid Technologies (Wolters Kluwer)]
日期:2023-10-31
卷期号:101 (18)
被引量:1
标识
DOI:10.1212/wnl.0000000000207829
摘要
Inborn errors of metabolism are a diverse group of genetic disorders including many that cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE). PDE occurs secondary to biallelic pathogenic variants in ALDH7A1 and can present with refractory neonatal seizures and status epilepticus. Neonatal seizures and encephalopathy are modifiable with pyridoxine (vitamin B6) supplementation. However, the clinical response to pyridoxine supplementation can be delayed. We present the case of a full-term neonate with PDE in which seizure cessation was seen a few hours after intravenous pyridoxine load, but the improvement in EEG background and level of clinical encephalopathy occurred five days later. We share this case to provide an example in which clinical improvement in PDE was gradual and required continuation of treatment for several days illustrating the necessity of continuing vitamin B6 supplementation in suspected cases until confirmatory genetic testing is obtained or an alternate cause is found.
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