维生素B_6依赖性抽搐是1954年由Hunt等证实的一个癫癎特殊型别。常见的临床特征为出生后的几小时内即发作全身性抽搐,标准的抗痉挛疗法难以奏效,仅给予盐酸吡哆醇(VitB_6)才能使抽搐的临床及脑电图征象消失。撤除吡哆醇后抽搐会再发,反映了对这种维生素的持续性需要。短时间的延误诊断及治疗,就导致严重精神运动迟钝。Seriver等推测由于生物合成酶—谷氨酸胱羧酶(GAD)——的活力降低,导致神经递质γ-氨基丁酸(GABA)合成减少,抽搐阈值降低而发病。本文报告一例临床证实为维生素B_6依赖性抽搐死亡的儿童脑组织的神经病理学及生物化学发现。患儿为男孩,出生后三小时开始四肢抽搐,自第四天起口服盐酸吡哆醇10毫克,至第十六天抽搐消失。脑电图恢复正常,此后每当因故停用或减少维生素B_6剂量,则抽搐发作;恢复服药则发作消失。十二岁时智力相当10个月小孩。十三岁时于停用维生素B_6三天后,死于癫癎持续状态。三个兄弟中二个有吡哆醇依赖性抽搐。一个于生后三天半死于癫癎持 Vitamin B_6-dependent convulsions were a special type of epilepsy confirmed in 1954 by Hunt et al. Common clinical features are systemic seizures that occur within a few hours of birth. Standard anticonvulsant therapy is refractory. Only clinical administration of pyridoxine hydrochloride (VitB_6) is required to eliminate signs of clinical and electroencephalographic signs of convulsions. The withdrawal of pyridoxine after convulsions will be repeated, reflecting the continued need for this vitamin. Short delays in diagnosis and treatment lead to severe mental retardation. Seriver et al. Hypothesized that due to the reduced activity of the biosynthetic enzyme glutamic acid, cystathionine (GAD), the synthesis of the neurotransmitter gamma-aminobutyric acid (GABA) was reduced and the threshold for twitch decreased. This article reports a case of neuropathology and biochemical findings in a childreated brain clinically confirmed as having died of vitamin B_6-dependent convulsions. Children with children, three hours after the start of limbs twitch, since the fourth day of pyridoxamine hydrochloride 10 mg, to the sixteenth day of convulsions disappeared. EEG returned to normal, then whenever the disabled or reduce the dose of vitamin B_6, the seizures; recovery medication seizures disappear. Intelligence is equivalent to 10 months of age at twelve. Thirteen years of age in the disabled vitamin B_6 after three days, died of epileptic persistence. Two of the three brothers had pyridoxine-dependent convulsions. One died of epilepsy in three and a half days after birth