Hypomyelination with atrophy of the basal ganglia and cerebellum: case report

Detalhes bibliográficos
Autor(a) principal: Matta,André Palma da Cunha
Data de Publicação: 2007
Outros Autores: Ribas,Márcia Cristina Antunes
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Arquivos de neuro-psiquiatria (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100033
Resumo: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare disease that has been recently described. It must be remembered as a possible etiology of leukoencephalopathies in children. We describe a typical case of H-ABC in a 11-month-old boy. He presents with global development delay, oral dyskinesia, and global dystonia and spasticity. Magnetic resonance imaging disclosed typical features of H-ABC and clinical laboratory tests were all negative. A slow neurological deterioration has been detected with worsening of involuntary movements.
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spelling Hypomyelination with atrophy of the basal ganglia and cerebellum: case reporthypomyelinationatrophybasal gangliacerebellumHypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare disease that has been recently described. It must be remembered as a possible etiology of leukoencephalopathies in children. We describe a typical case of H-ABC in a 11-month-old boy. He presents with global development delay, oral dyskinesia, and global dystonia and spasticity. Magnetic resonance imaging disclosed typical features of H-ABC and clinical laboratory tests were all negative. A slow neurological deterioration has been detected with worsening of involuntary movements.Academia Brasileira de Neurologia - ABNEURO2007-03-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100033Arquivos de Neuro-Psiquiatria v.65 n.1 2007reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2007000100033info:eu-repo/semantics/openAccessMatta,André Palma da CunhaRibas,Márcia Cristina Antuneseng2007-03-23T00:00:00Zoai:scielo:S0004-282X2007000100033Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2007-03-23T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
title Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
spellingShingle Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
Matta,André Palma da Cunha
hypomyelination
atrophy
basal ganglia
cerebellum
title_short Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
title_full Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
title_fullStr Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
title_full_unstemmed Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
title_sort Hypomyelination with atrophy of the basal ganglia and cerebellum: case report
author Matta,André Palma da Cunha
author_facet Matta,André Palma da Cunha
Ribas,Márcia Cristina Antunes
author_role author
author2 Ribas,Márcia Cristina Antunes
author2_role author
dc.contributor.author.fl_str_mv Matta,André Palma da Cunha
Ribas,Márcia Cristina Antunes
dc.subject.por.fl_str_mv hypomyelination
atrophy
basal ganglia
cerebellum
topic hypomyelination
atrophy
basal ganglia
cerebellum
description Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare disease that has been recently described. It must be remembered as a possible etiology of leukoencephalopathies in children. We describe a typical case of H-ABC in a 11-month-old boy. He presents with global development delay, oral dyskinesia, and global dystonia and spasticity. Magnetic resonance imaging disclosed typical features of H-ABC and clinical laboratory tests were all negative. A slow neurological deterioration has been detected with worsening of involuntary movements.
publishDate 2007
dc.date.none.fl_str_mv 2007-03-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100033
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000100033
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2007000100033
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.1 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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