维生素B6反应性癫痫_Journal of Epilepsy

Authors：

戴双双 , 周昀箐 ,  王纪文

上海交通大学医学院附属上海儿童医学中心神经内科(上海 200127);

Corresponding author：

王纪文, Email: wangjiwen_99@hotmail.com

Keywords：

维生素B6; 吡哆醇; 吡哆醛; 婴儿痉挛

DOI：

10.7507/2096-0247.20170035

Video：

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维生素B6(VitaminB6, VB6) 相关性癫痫或发作主要包括VB6缺乏性惊厥、VB6依赖性癫痫和VB6反应性癫痫，前二者由于社会和科学的进步可以被预防逐渐被人们认识并得到有效治疗，但VB6反应性癫痫尚未得到广泛重视。VB6反应性癫痫是指发作可被VB6单药控制，或在已有抗癫痫药物不能控制的基础上加用VB6后发作控制达1个月以上，治疗一定时间后可停用而不会复发。其临床特点包括：① 发作起始年龄在3个月~5岁，大多数在1岁以内；② 癫痫多为婴儿痉挛，少数为Lennox-Gastaut综合征、强直-阵挛发作或局灶运动性发作；③ 病因不仅为特发性或隐源性，也可为有器质性脑损伤的症状性；④ 色氨酸负荷试验通常为阴性；⑤ 口服大剂量VB6可使发作减少或消失；⑥ 排除VB6缺乏性惊厥和VB6依赖性癫痫。VB6反应性癫痫的发病机制尚不清楚，可能与年龄依赖的酶功能异常，或与VB6依赖性神经递质的功能成熟关键阶段有关，预后良好。

Citation： 戴双双, 周昀箐, 王纪文. 维生素B6反应性癫痫. Journal of Epilepsy, 2017, 3(3): 230-233. doi: 10.7507/2096-0247.20170035 Copy

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10.	薛姣, 杨志仙, 吴晔, 等.维生素B6反应性婴儿痉挛临床特征及预后分析.中华儿科杂志, 2016, 54(2): 141-144.
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13.	陈静.可治性罕见病.上海:上海交通大学出版社, 2017: 491-495.
14.	杨志仙, 秦炯.吡哆醇依赖性癫痫的临床及分子遗传学研究进展.中华儿科杂志, 2013, 51(11): 867-870.
15.	周昀箐, 张雅雯, 王纪文.吡哆醇(胺)氧化酶缺乏的研究进展.癫痫杂志, 2016, 2(5): 422-425.
16.	Ohtsuka Y, Ogino T, Asano T, et al. Long-term follow-up of vitamin B6-responsive West syndrome. Pediatr Neurol, 2000, 23(2): 202-206.

1. Albersen M, Bosma M, Jans JJ, et al.Vitamin B6 in plasma and cerebrospinal fluid of children.PLoS One, 2015, 10(3): e0120972.
2. Ohtahara S, Yamatogi Y, Ohtsuka Y.Vitamin B6 treatment of intractable seizures.Brain Dev, 2011, 33(9): 783-789.
3. Schmitt B, Baumgartner M, Mills PB, et al.Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.Dev Med Child Neurol, 2010, 52(7): e133-142.
4. Plecko B.Pyridoxine and pyridoxalphosphate-dependent epilepsies.Handb Clin Neurol, 2013, 113(7): 1811-1817.
5. Blennow G, Starck L.High dose B6 treatment in infantile spasms.Neuropediatrics, 1986, 17(1): 7-10.
6. Pietz J, Benninger C, Schfer H, et al. Treatment of infantile spasms with high-dosage vitamin B6.Epilepsia, 1993, 34(4): 757-763.
7. Tsuji T, Okumura A, Ozawa H, et al. Current treatment of west syndrome in japan.J Child Neurol, 2007, 22(5): 560-564.
8. Wang HS, Kuo MF, Chou ML, et al. Pyridoxal phosphate is better than pyridoxine for controlling idiopathic intractable epilepsy.Arch Dis Child, 2005, 90(4): 512-515.
9. 代方方, 张萍丽, 孙士静, 等.维生素B6反应性婴儿痉挛2例报告.中国实用儿科杂志, 2016, 31(2): 159-160.
10. 薛姣, 杨志仙, 吴晔, 等.维生素B6反应性婴儿痉挛临床特征及预后分析.中华儿科杂志, 2016, 54(2): 141-144.
11. Bennett CL, Chen Y, Hahn S, et al. Prevalence of ALDH7A1 mutations in 18 north american pyridoxine dependent seizure (PDS) patients.Epilepsia, 2009, 50(4): 1167-1175.
12. 杨志仙, 薛姣.维生素B6相关性癫痫.中华实用儿科临床杂志, 2016, 31(24): 1841-1848.
13. 陈静.可治性罕见病.上海:上海交通大学出版社, 2017: 491-495.
14. 杨志仙, 秦炯.吡哆醇依赖性癫痫的临床及分子遗传学研究进展.中华儿科杂志, 2013, 51(11): 867-870.
15. 周昀箐, 张雅雯, 王纪文.吡哆醇(胺)氧化酶缺乏的研究进展.癫痫杂志, 2016, 2(5): 422-425.
16. Ohtsuka Y, Ogino T, Asano T, et al. Long-term follow-up of vitamin B6-responsive West syndrome. Pediatr Neurol, 2000, 23(2): 202-206.

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