Pyridoxine-dependent epilepsy initially responsive to phenobarbital

Pyridoxine-dependent epilepsy initially responsive to phenobarbital

Alternative title Epilepsia por dependência de piridoxina inicialmente responsiva ao fenobarbital
Author Lin, Jaime Autor UNIFESP Google Scholar
Lin, Katia Autor UNIFESP Google Scholar
Masruha, Marcelo Rodrigues Autor UNIFESP Google Scholar
Vilanova, Luiz Celso Pereira Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract Pyridoxine-dependent epilepsy is a rare autossomal 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.

A epilepsia por dependência de piridoxina é uma doença autossômica recessiva rara caracterizada por crises recorrentes refratárias a tratamento medicamentoso, mas que remitem após a administração de piridoxina. Relatamos o caso de menina de 30 dias de vida que iniciou crises convulsivas desde o primeiro dia de vida, inicialmente responsivas a tratamento com drogas anticonvulsivantes, mas que reiniciaram após a segunda semana de vida. As crises eram caracterizadas por movimentos clônicos erráticos de membros superiores e inferiores associados a movimentos oromandibulares e piscamentos. Exames laboratoriais e de neuroimagem foram normais. O exame eletrencefalográfico evidenciou atividade de base desorganizada com descargas epilépticas de alta voltagem associadas a um padrão de surto-supressão. As crises cessaram após a administração de piridoxina e recorreram após a sua retirada, confirmando o diagnóstico.
Keywords pyridoxine
epilepsy
neurologic manifestations
piridoxina
epilepsia
manifestações neurológicas
Language English
Date 2007-12-01
Published in Arquivos de Neuro-Psiquiatria. Academia Brasileira de Neurologia - ABNEURO, v. 65, n. 4a, p. 1026-1029, 2007.
ISSN 0004-282X (Sherpa/Romeo)
Publisher Academia Brasileira de Neurologia - ABNEURO
Extent 1026-1029
Origin http://dx.doi.org/10.1590/S0004-282X2007000600023
Access rights Open access Open Access
Type Article
SciELO ID S0004-282X2007000600023 (statistics in SciELO)
URI http://repositorio.unifesp.br/handle/11600/4037

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