van Waarde W M, Tummers R F, Bosschaart A N, Hageman G
Medisch Spectrum Twente, Enschede.
Ned Tijdschr Geneeskd. 1995 Aug 19;139(33):1694-7.
A newborn girl with seizures was, after repeated conventional anticonvulsive treatment, cured by pyridoxine administration. Pyridoxine-dependent seizures are an uncommon disease with autosomal-recessive heredity and a variable clinical picture. The prognosis may be favourable when diagnosis is made early. Confusion with perinatal asphyxia, and initial good response to usual anticonvulsive treatment can lead to delay in diagnosis.
一名患有惊厥的新生女婴在反复进行常规抗惊厥治疗后，通过给予维生素B6得以治愈。维生素B6依赖性惊厥是一种罕见的常染色体隐性遗传性疾病，临床表现多样。若能早期诊断，预后可能良好。与围产期窒息相混淆，以及最初对常规抗惊厥治疗有良好反应，可能会导致诊断延迟。
