Farmania Rajni, Gupta Ankit, Ankur Kumar, Chetry Sanjeev, Sharma Suvasini
Pediatric Neurology. Consultant, Division of Pediatric Neurology, BL Kapur Superspecialiy Hospital, Delhi, India.
Consultant and Incharge, Pediatric Neurology, Department of Pediatrics, BLK Superspeciality Hospital, Delhi, India.
Epilepsy Behav Rep. 2021 Apr 3;16:100443. doi: 10.1016/j.ebr.2021.100443. eCollection 2021.
Pyridox(am)ine- 5- phosphate Oxidase deficiency (PNPO) is a rare cause of neonatal metabolic encephalopathy associated with refractory status epilepticus. We report a case of a premature neonate presenting with drug-resistant seizures beginning at 2 hours of life. The baby showed initial transient response to pyridoxine followed by recurrence. Genetic report confirmed the diagnosis of PNPO deficiency. A literature review on phenotypic variants in terms of response to pyridoxine is also presented along with a proposed algorithm to manage a case of suspected vitamin responsive epilepsy. This case highlights our limited understanding of why variation in response to treatment exists in children with PNPO deficiency.
吡哆（胺）素-5-磷酸氧化酶缺乏症（PNPO）是新生儿代谢性脑病的罕见病因，与难治性癫痫持续状态相关。我们报告一例早产新生儿，出生2小时起即出现耐药性癫痫发作。该婴儿起初对维生素B6有短暂反应，随后复发。基因报告证实诊断为PNPO缺乏症。本文还介绍了关于对维生素B6反应的表型变异的文献综述以及针对疑似维生素反应性癫痫病例的管理建议算法。该病例凸显了我们对PNPO缺乏症患儿治疗反应存在差异的原因了解有限。
