磷酸吡哆醇(胺)氧化酶缺乏症1例并文献复习
Pyridox(am)ine-5'-phosphate oxidase deficiency:A case report and literature review
沈蕾蕾 1万少友 1陈盛1
作者信息
- 1. 陆军军医大学第一附属医院儿科,重庆 400038
- 折叠
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_451 del父源、c.558_561 del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.
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.
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Key words
pyridox(am)ine-5'-phosphate oxidase deficiency/pyridoxal-5'-phosphate/PNPO gene/intractable epilepsy引用本文复制引用
基金项目
陆军军医大学优秀人才库重点扶持计划项目(XZ-2019-505-030)
出版年
2024
国家科技期刊平台
NSTL
万方数据