Pyridoxine-dependent epilepsy initially responsive to phenobarbital.
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.
Lin
Jaime
J
Division of Child Neurology, Escola Paulista de Medicina, Federal University of São Paulo, SP, Brazil. linjaime@yahoo.com
Lin
Katia
K
Masruha
Marcelo Rodrigues
MR
Vilanova
Luiz Celso Pereira
LC
D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D011736:Pyridoxine / Q000627:therapeutic use*; D012008:Recurrence; D016896:Treatment Outcome; D014803:Vitamin B Complex / Q000627:therapeutic use*
D014803:Vitamin B Complex; D011736:Pyridoxine