中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (10): 796-800.DOI: 10.19538/j.ek2024100617

• 病例报告 • 上一篇    

磷酸吡哆醇（胺）氧化酶缺乏症1例并文献复习

  

  1. 陆军军医大学第一附属医院儿科，重庆  400038
  • 出版日期:2024-10-06 发布日期:2024-11-06
  • 通讯作者: 陈盛，电子信箱：chensh129@tmmu.edu.cn
  • 基金资助:
    陆军军医大学优秀人才库重点扶持计划项目（XZ-2019-505-030）

Pyridox （am）ine-5'-phosphate oxidase deficiency: A case report and literature review

  1. Department of Pediatrics，Army Medical University First Affiliated Hospital，Chongqing  400038，China
  • Online:2024-10-06 Published:2024-11-06

摘要： 回顾性分析2022-08-22陆军军医大学第一附属医院收治的1例磷酸吡哆醇（胺）氧化酶（PNPO）缺乏症患儿临床资料，并检索相关文献资料复习。患儿男，胎龄34周+4，生后未满24h出现难治性惊厥伴肌阵挛发作，脑电图表现为爆发抑制型，基因分析证实存在PNPO基因复合杂合变异：c.448_451del父源、c.558_561del母源。新生儿早期癫痫发作且常规抗癫痫治疗效果欠佳者，需警惕该病可能，确诊则依赖基因检测。

关键词: 磷酸吡哆醇（胺）氧化酶缺乏症, 磷酸吡哆醛, PNPO基因, 难治性癫痫

Abstract: The clinical data of a child with Pyridox （am）ine-5'-phosphate oxidase （PNPO） deficiency admitted to the First Affiliated Hospital of Army Medical University in August 2022 were retrospectively analyzed， and relevant literature was retrieved and reviewed.The child was a male with a gestational age of 34 weeks 4 days， and presented with refractory convulsion with myoclonic seizures in less than 24 hours after birth， with the electroencephalogram showing a violently inhibitory pattern， and the presence of a compound heterozygous variant of the PNPO gene was confirmed by genetic analysis: c.448_451del paternal origin and c.558_561del maternal origin. For early neonatal seizures with poor outcome on conventional antiepileptic therapy， the possibility of the disease should be considered， and confirmation of the diagnosis relies on genetic testing.

Key words: pyridox（am）ine-5'-phosphate oxidase deficiency, pyridoxal-5'-phosphate, PNPO gene, intractable epilepsy