Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome
Autor(a) principal: | |
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Data de Publicação: | 2006 |
Outros Autores: | , , , |
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=S0004-282X2006000600027 |
Resumo: | INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea. |
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Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndromecorpus callosumambiguous genitaliaepilepsyARX geneINTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.Academia Brasileira de Neurologia - ABNEURO2006-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000600027Arquivos de Neuro-Psiquiatria v.64 n.4 2006reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2006000600027info:eu-repo/semantics/openAccessSpinosa,Mônica JaquesLiberalesso,Paulo Breno NoronhaVieira,Simone CarreiroOlmos,Alaídes Susana FojoLöhr Júnior,Alfredoeng2006-12-21T00:00:00Zoai:scielo:S0004-282X2006000600027Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2006-12-21T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
title |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
spellingShingle |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome Spinosa,Mônica Jaques corpus callosum ambiguous genitalia epilepsy ARX gene |
title_short |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
title_full |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
title_fullStr |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
title_full_unstemmed |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
title_sort |
Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome |
author |
Spinosa,Mônica Jaques |
author_facet |
Spinosa,Mônica Jaques Liberalesso,Paulo Breno Noronha Vieira,Simone Carreiro Olmos,Alaídes Susana Fojo Löhr Júnior,Alfredo |
author_role |
author |
author2 |
Liberalesso,Paulo Breno Noronha Vieira,Simone Carreiro Olmos,Alaídes Susana Fojo Löhr Júnior,Alfredo |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Spinosa,Mônica Jaques Liberalesso,Paulo Breno Noronha Vieira,Simone Carreiro Olmos,Alaídes Susana Fojo Löhr Júnior,Alfredo |
dc.subject.por.fl_str_mv |
corpus callosum ambiguous genitalia epilepsy ARX gene |
topic |
corpus callosum ambiguous genitalia epilepsy ARX gene |
description |
INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea. |
publishDate |
2006 |
dc.date.none.fl_str_mv |
2006-12-01 |
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=S0004-282X2006000600027 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000600027 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X2006000600027 |
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.64 n.4 2006 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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