Pyridoxine-dependent epilepsy initially responsive to phenobarbital
Arq. neuropsiquiatr
;
65(4a): 1026-1029, dez. 2007. ilus
Article
in English
| LILACS
| ID: lil-470138
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.
RESUMO
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Pyridoxine
/
Vitamin B Complex
/
Epilepsy
Type of study:
Diagnostic study
/
Etiology study
/
Observational study
/
Prognostic study
/
Risk factors
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
2007
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
UNIFESP/BR
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