Caraballo R, Garro F, Cersósimo R, Buompadre C, Gañez L A, Fejerman N
Servicio de Neurología, Hospital de Niños Prof Dr JP Garrahan, Buenos Aires, Argentina.
Rev Neurol. 2004;38(1):49-52.
We described the electroclinical features, evolution and family history of two patients with definitive diagnosis of pyridoxine dependency.
The first patient is a 15-month-old girl who at 1 month of age started with seizures and irritability. At two months of age, pyridoxine was prescribed with a good control of seizures. At five months of age withdrawal response provoked 7 days after seizures recurrence. Pyridoxine was reintroduced and seizures disappeared. Her sister, at two months of age, started with refractory seizures. This sister also had mental retardation and at four years, she died. Her brother, 16 years old, presents mental retardation, refractory epilepsy and progressive motor and cognitive impairment. At 3 months of age, he started with seizures and at 15 years of age, pyridoxine was prescribed with a significative improvement the number of seizures and a better visual connection. The second patient is a 4-month-old girl who started with clonic seizures at 3 days of age and she had a good response to pyridoxine. Withdrawal response provoked seizure recurrence at 48 hours. Pyridoxine was introduced immediately with total control of seizures. She had two cousins with seizures who died at 3 months and 3 years of age respectively.
When dealing with an infant with refractory seizures which start in the first two years of life and without etiology, we should consider the diagnosis of pyridoxine dependency. Early diagnosis and treatment with pyridoxine is crucial to avoid high risk morbidity and mortality. All infants in the two first years of life with refractory seizures without etiology must be prescribed oral pyridoxine (50-200 mg per day).
我们描述了两名确诊为维生素B6依赖症患者的电临床特征、病情发展及家族史。
首例患者为一名15个月大的女孩，1个月大时开始出现癫痫发作和易激惹症状。2个月大时，开始使用维生素B6治疗，癫痫发作得到良好控制。5个月大时，在癫痫复发7天后出现撤药反应。重新使用维生素B6后，癫痫发作消失。她的姐姐在2个月大时开始出现难治性癫痫发作。这名姐姐还患有智力障碍，4岁时死亡。她的哥哥，16岁，存在智力障碍、难治性癫痫以及进行性运动和认知障碍。3个月大时开始出现癫痫发作，15岁时开始使用维生素B6治疗，癫痫发作次数显著减少，视觉联系也有所改善。第二例患者是一名4个月大的女孩，3天大时开始出现阵挛性癫痫发作，对维生素B6治疗反应良好。48小时撤药时癫痫复发。立即重新使用维生素B6后癫痫完全得到控制。她有两个分别在3个月和3岁时死于癫痫发作的堂兄弟姊妹。
当面对一名在生命的头两年内起病且无病因的难治性癫痫婴儿时，应考虑维生素B6依赖症的诊断。早期诊断并使用维生素B6治疗对于避免高风险的发病率和死亡率至关重要。所有生命头两年内患有无病因难治性癫痫的婴儿均须口服维生素B6（每日50 - 200毫克）。
