MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome

Detalhes bibliográficos
Autor(a) principal: Nakayama,Mauro
Data de Publicação: 2006
Outros Autores: Távora,Daniel G.F., Alvim,Thereza C.L., Araújo,Alexandre C.B., Gama,Rômulo L.
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=S0004-282X2006000300009
Resumo: Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy (¹H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and ¹H-MRS findings are discussed.
id ABNEURO-1_fe45ca5d674282ea6188138272a1908d
oai_identifier_str oai:scielo:S0004-282X2006000300009
network_acronym_str ABNEURO-1
network_name_str Arquivos de neuro-psiquiatria (Online)
repository_id_str
spelling MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndromeSjögren-Larsson syndromemagnetic resonance imagingproton spectroscopySjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy (¹H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and ¹H-MRS findings are discussed.Academia Brasileira de Neurologia - ABNEURO2006-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000300009Arquivos de Neuro-Psiquiatria v.64 n.2b 2006reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2006000300009info:eu-repo/semantics/openAccessNakayama,MauroTávora,Daniel G.F.Alvim,Thereza C.L.Araújo,Alexandre C.B.Gama,Rômulo L.eng2006-08-02T00:00:00Zoai:scielo:S0004-282X2006000300009Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2006-08-02T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
title MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
spellingShingle MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
Nakayama,Mauro
Sjögren-Larsson syndrome
magnetic resonance imaging
proton spectroscopy
title_short MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
title_full MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
title_fullStr MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
title_full_unstemmed MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
title_sort MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome
author Nakayama,Mauro
author_facet Nakayama,Mauro
Távora,Daniel G.F.
Alvim,Thereza C.L.
Araújo,Alexandre C.B.
Gama,Rômulo L.
author_role author
author2 Távora,Daniel G.F.
Alvim,Thereza C.L.
Araújo,Alexandre C.B.
Gama,Rômulo L.
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Nakayama,Mauro
Távora,Daniel G.F.
Alvim,Thereza C.L.
Araújo,Alexandre C.B.
Gama,Rômulo L.
dc.subject.por.fl_str_mv Sjögren-Larsson syndrome
magnetic resonance imaging
proton spectroscopy
topic Sjögren-Larsson syndrome
magnetic resonance imaging
proton spectroscopy
description Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy (¹H-MRS) reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and ¹H-MRS findings are discussed.
publishDate 2006
dc.date.none.fl_str_mv 2006-06-01
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=S0004-282X2006000300009
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000300009
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2006000300009
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.2b 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
_version_ 1754212759763943424

Registros relacionados