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

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。

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.