[Pyridoxine-dependent epilepsy in an infant].
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.
van Waarde
W M
WM
Medisch Spectrum Twente, Enschede.
Tummers
R F
RF
Bosschaart
A N
AN
Hageman
G
G
D000927:Anticonvulsants / Q000627:therapeutic use*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D011736:Pyridoxine / Q000627:therapeutic use*; D012640:Seizures / Q000188:drug therapy* / Q000235:genetics
D000927:Anticonvulsants; D011736:Pyridoxine
Pyridoxine-afhankelijke epilepsie bij een zuigeling.