维生素B6相关性癫痫

Vitamin B6 related epilepsy

维生素B6相关性癫痫是指癫痫发作不能被抗癫痫药物控制，但可被维生素B6控制或明显改善的一组癫痫相关性疾病，主要包括吡哆醇依赖性癫痫和吡哆醇反应性癫痫，后者又包括维生素B6反应性婴儿痉挛、磷酸吡哆醇（胺）氧化酶（PNPO）缺乏症、高磷酸酶症伴智力落后综合征（即Mabry综合征）等。此组疾病临床表现无特异性，均可表现为新生儿期或婴儿期出现难治性癫痫发作，需与新生儿缺氧缺血性脑病、大田原综合征和非酮症性高甘氨酸血症等疾病鉴别。吡哆醇依赖性癫痫、PNPO缺乏症和Mabry综合征有相对特异的生化标志物，且有明确的致病基因，有助于诊断。推荐对所有早期出现癫痫发作的患儿（包括所有婴儿痉挛患儿），首先试用吡哆醇或磷酸吡哆醛治疗，防止遗漏此组疾病。确诊后，依具体疾病应用维生素B6长期或终生维持治疗。

Vitamin B6 related epilepsy is a group of epileptic diseases, seizures in which could not be con- trolled by antiepileptic drugs, but could be controlled or obviously improved by vitamin B6. It comprises of pyridoxine dependent epilepsy and pyridoxine responsive epilepsy predominantly, and the latter includes vitamin B6 responsive in- fantile spasms, pyridox （am） ine - 5＇ - phosphate oxidase （ PNPO ） deficiency, hyperphosphatasia mental retardation syndrome （ Mabry syndrome） and so on. The clinical presentations of the diseases above are nonspecific, manifesting as refractory seizures ~nset in neonatal or infantile period,whlch need to be distinguished from other diseases such as new- born hypoxic ischemic encephalopathy, Ohtahara syndrome and non - ketotic hyperglycinemia. Pyridoxine dependent epilepsy,PNPO deficiency and Mabry syndrome have relative specific biomarkers and known disease- causing genes, which are helpful for diagnosis. It is suggested that pyridoxine or pyridoxal phosphate should be tried first for all patients started seizures early （ including all infantile spasms patients） , avoiding missing these diseases. And once diagnosed, vi- tamin B6 should be maintained long- term or all the life according to the detailed disease.