Pyridoxine-dependent epilepsy initially responsive to phenobarbital
Main Author: | |
---|---|
Publication Date: | 2007 |
Other Authors: | , , |
Format: | Article |
Language: | eng |
Source: | Arquivos de neuro-psiquiatria (Online) |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000600023 |
Summary: | 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. |
id |
ABNEURO-1_26b461dac008eeaea1688bf7946afc0f |
---|---|
oai_identifier_str |
oai:scielo:S0004-282X2007000600023 |
network_acronym_str |
ABNEURO-1 |
network_name_str |
Arquivos de neuro-psiquiatria (Online) |
repository_id_str |
|
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 |
_version_ |
1754212762777550848 |