Pyridoxine-dependent epilepsy initially responsive to phenobarbital

Detalhes bibliográficos
Autor(a) principal: Lin,Jaime
Data de Publicação: 2007
Outros Autores: Lin,Katia, Masruha,Marcelo Rodrigues, Vilanova,Luiz Celso Pereira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000600023
Resumo: 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.
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spelling Pyridoxine-dependent epilepsy initially responsive to phenobarbitalpyridoxineepilepsyneurologic manifestationsPyridoxine-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.Academia Brasileira de Neurologia - ABNEURO2007-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000600023Arquivos de Neuro-Psiquiatria v.65 n.4a 2007reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2007000600023info:eu-repo/semantics/openAccessLin,JaimeLin,KatiaMasruha,Marcelo RodriguesVilanova,Luiz Celso Pereiraeng2007-12-06T00:00:00Zoai:scielo:S0004-282X2007000600023Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2007-12-06T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Pyridoxine-dependent epilepsy initially responsive to phenobarbital
title Pyridoxine-dependent epilepsy initially responsive to phenobarbital
spellingShingle Pyridoxine-dependent epilepsy initially responsive to phenobarbital
Lin,Jaime
pyridoxine
epilepsy
neurologic manifestations
title_short Pyridoxine-dependent epilepsy initially responsive to phenobarbital
title_full Pyridoxine-dependent epilepsy initially responsive to phenobarbital
title_fullStr Pyridoxine-dependent epilepsy initially responsive to phenobarbital
title_full_unstemmed Pyridoxine-dependent epilepsy initially responsive to phenobarbital
title_sort Pyridoxine-dependent epilepsy initially responsive to phenobarbital
author Lin,Jaime
author_facet Lin,Jaime
Lin,Katia
Masruha,Marcelo Rodrigues
Vilanova,Luiz Celso Pereira
author_role author
author2 Lin,Katia
Masruha,Marcelo Rodrigues
Vilanova,Luiz Celso Pereira
author2_role author
author
author
dc.contributor.author.fl_str_mv Lin,Jaime
Lin,Katia
Masruha,Marcelo Rodrigues
Vilanova,Luiz Celso Pereira
dc.subject.por.fl_str_mv pyridoxine
epilepsy
neurologic manifestations
topic pyridoxine
epilepsy
neurologic manifestations
description 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.
publishDate 2007
dc.date.none.fl_str_mv 2007-12-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000600023
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000600023
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2007000600023
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
publisher.none.fl_str_mv Academia Brasileira de Neurologia - ABNEURO
dc.source.none.fl_str_mv Arquivos de Neuro-Psiquiatria v.65 n.4a 2007
reponame:Arquivos de neuro-psiquiatria (Online)
instname:Academia Brasileira de Neurologia
instacron:ABNEURO
instname_str Academia Brasileira de Neurologia
instacron_str ABNEURO
institution ABNEURO
reponame_str Arquivos de neuro-psiquiatria (Online)
collection Arquivos de neuro-psiquiatria (Online)
repository.name.fl_str_mv Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia
repository.mail.fl_str_mv ||revista.arquivos@abneuro.org
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