Lin Jaime, Lin Katia, Masruha Marcelo Rodrigues, Vilanova Luiz Celso Pereira
Division of Child Neurology, Escola Paulista de Medicina, Federal University of São Paulo, SP, Brazil.
Arq Neuropsiquiatr. 2007 Dec;65(4A):1026-9. doi: 10.1590/s0004-282x2007000600023.
Pyridoxine-dependent epilepsy is a rare autosomal recessive disorder characterized by recurrent seizures that are not controlled by anticonvulsant medications but remits after administration of pyridoxine. We report on a 30 day-old girl who presented with seizures during the first day of life, initially responsive to anticonvulsant therapy, which remitted within two weeks. Seizures were characterized as multifocal myoclonic jerks of upper and lower limbs associated with buccal-lingual oral movements and eyelid blinking. Laboratory and neuroimaging studies were normal. Electroencephalographic record demonstrated a abnormal background activity with high-voltage epileptic discharges and a burst-suppression pattern. The seizures ceased after oral administration of pyridoxine, but recurred after withdrawal, confirming the diagnosis.
吡哆醇依赖性癫痫是一种罕见的常染色体隐性疾病，其特征为反复发作的癫痫，抗惊厥药物无法控制，但在给予吡哆醇后可缓解。我们报告一名30日龄女婴，其在出生第一天出现癫痫发作，最初对抗惊厥治疗有反应，癫痫发作在两周内缓解。癫痫发作表现为上下肢多灶性肌阵挛抽搐，伴有颊舌部口腔运动和眼睑眨动。实验室检查和神经影像学检查均正常。脑电图记录显示背景活动异常，伴有高压癫痫放电和暴发抑制模式。口服吡哆醇后癫痫发作停止，但停药后复发，从而确诊。
