Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients
Autor(a) principal: | |
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Data de Publicação: | 2007 |
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=S0004-282X2007000300028 |
Resumo: | A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (¹H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column dysfunction. MRI and ¹H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum. |
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Arquivos de neuro-psiquiatria (Online) |
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Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patientsleukoencephalopathybrainstemspinal cordlactateA novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (¹H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column dysfunction. MRI and ¹H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum.Academia Brasileira de Neurologia - ABNEURO2007-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000300028Arquivos de Neuro-Psiquiatria v.65 n.2b 2007reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2007000300028info:eu-repo/semantics/openAccessTávora,Daniel Gurgel FernandesNakayama,MauroGama,Rômulo LopesAlvim,Thereza Cristina de LaraPortugal,DaltonComerlato,Enio Albertoeng2007-07-24T00:00:00Zoai:scielo:S0004-282X2007000300028Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2007-07-24T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
title |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
spellingShingle |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients Távora,Daniel Gurgel Fernandes leukoencephalopathy brainstem spinal cord lactate |
title_short |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
title_full |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
title_fullStr |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
title_full_unstemmed |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
title_sort |
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three brazilian patients |
author |
Távora,Daniel Gurgel Fernandes |
author_facet |
Távora,Daniel Gurgel Fernandes Nakayama,Mauro Gama,Rômulo Lopes Alvim,Thereza Cristina de Lara Portugal,Dalton Comerlato,Enio Alberto |
author_role |
author |
author2 |
Nakayama,Mauro Gama,Rômulo Lopes Alvim,Thereza Cristina de Lara Portugal,Dalton Comerlato,Enio Alberto |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Távora,Daniel Gurgel Fernandes Nakayama,Mauro Gama,Rômulo Lopes Alvim,Thereza Cristina de Lara Portugal,Dalton Comerlato,Enio Alberto |
dc.subject.por.fl_str_mv |
leukoencephalopathy brainstem spinal cord lactate |
topic |
leukoencephalopathy brainstem spinal cord lactate |
description |
A novel leukoencephalopathy was recently identified based on magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (¹H-MRS) findings. Leukoencephalopathy with brainstem and spinal cord involvement and high lactate (LBSL) is an autosomal recessive disorder characterized by early onset of symptoms and slowly progressive cerebellar, pyramidal and spinal cord dorsal column dysfunction. MRI and ¹H-MRS typically show abnormalities within cerebral and cerebellar white matter, a characteristic involvement of brainstem and spinal cord tracts and elevated lactate in the abnormal white matter. We present three cases with characteristic clinical and neuroimaging findings of this disorder. Some additional unique findings of our patients are discussed, like distal motor neuropathy and elevated creatine kinase in the serum. |
publishDate |
2007 |
dc.date.none.fl_str_mv |
2007-06-01 |
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=S0004-282X2007000300028 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2007000300028 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X2007000300028 |
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.2b 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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1754212761874726912 |