Pyridoxine-dependent epilepsy initially responsive to phenobarbital.

Abstract:

: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.

journal_name

Arq Neuropsiquiatr

authors

Lin J,Lin K,Masruha MR,Vilanova LC

doi

10.1590/s0004-282x2007000600023

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

1026-9

issue

4A

eissn

0004-282X

issn

1678-4227

pii

S0004-282X2007000600023

journal_volume

65

pub_type

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