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吡哆醇依赖性癫痫作为新生儿癫痫的病因。

Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures.

机构信息

Assistant Professor, Division of Pediatric Emergency Medicine, Department of Pediatrics, University of Texas Southwestern Medical Center.

Assistant Professor, Departments of Emergency Medicine and Pediatrics, Alpert Medical School of Brown University.

出版信息

R I Med J (2013). 2022 Mar 1;105(2):17-21.

PMID:35211704
Abstract

Pediatric seizures are a common reason for emergency department visits. The highest risk of seizures in children is during the neonatal period. A low index of suspicion is important to facilitate the early assessment, workup, and treatment of inborn errors of metabolism to optimize developmental outcomes. We present the rare case of a 9-day-old with seizures refractory to multiple anticonvulsant medications who was diagnosed with pyridoxine-dependent epilepsy. We review differences in the management of neonatal seizures from older patients, the utility of a trial of pyridoxine in refractory neonatal seizures, and the importance of preparing for emergent airway management given pyridoxine's ability to cause apnea and central nervous system depression.

摘要

儿科癫痫发作是急诊就诊的常见原因。儿童癫痫发作的风险最高时期是新生儿期。怀疑程度低对于促进代谢性遗传病的早期评估、检查和治疗以优化发育结果很重要。我们报告了一例 9 天大的癫痫持续状态婴儿病例,该婴儿对多种抗癫痫药物治疗无效,被诊断为吡哆醇依赖性癫痫。我们回顾了新生儿癫痫与老年患者管理的差异,吡哆醇治疗难治性新生儿癫痫的作用,以及鉴于吡哆醇可引起呼吸暂停和中枢神经系统抑制,做好紧急气道管理准备的重要性。

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Pyridoxine-Dependent Epilepsy as a Cause of Neonatal Seizures.吡哆醇依赖性癫痫作为新生儿癫痫的病因。
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Pearls & Oy-sters: Delayed Response to Pyridoxine in Pyridoxine-Dependent Epilepsy.珍珠与牡蛎:吡哆醇依赖型癫痫中吡哆醇反应延迟。
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引用本文的文献

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Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.维生素B6依赖型疾病的癫痫表型:一项更新的系统评价
Children (Basel). 2023 Mar 15;10(3):553. doi: 10.3390/children10030553.