Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

Detalhes bibliográficos
Autor(a) principal: MARIE,SUELY K.NAGAHASHI
Data de Publicação: 1999
Outros Autores: CARVALHO,ALZIRA A.S., FONSECA,LUIZ FERNANDO, CARVALHO,MARY S., REED,UMBERTINA C., SCAFF,MILBERTO
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=S0004-282X1999000600020
Resumo: We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
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spelling Kearns-Sayre syndrome "plus": classical clinical findings and dystoniaKearns-Sayre syndromedystoniamitochondrial DNA deletionWe present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.Academia Brasileira de Neurologia - ABNEURO1999-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600020Arquivos de Neuro-Psiquiatria v.57 n.4 1999reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1999000600020info:eu-repo/semantics/openAccessMARIE,SUELY K.NAGAHASHICARVALHO,ALZIRA A.S.FONSECA,LUIZ FERNANDOCARVALHO,MARY S.REED,UMBERTINA C.SCAFF,MILBERTOeng2000-04-03T00:00:00Zoai:scielo:S0004-282X1999000600020Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2000-04-03T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
title Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
spellingShingle Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
MARIE,SUELY K.NAGAHASHI
Kearns-Sayre syndrome
dystonia
mitochondrial DNA deletion
title_short Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
title_full Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
title_fullStr Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
title_full_unstemmed Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
title_sort Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
author MARIE,SUELY K.NAGAHASHI
author_facet MARIE,SUELY K.NAGAHASHI
CARVALHO,ALZIRA A.S.
FONSECA,LUIZ FERNANDO
CARVALHO,MARY S.
REED,UMBERTINA C.
SCAFF,MILBERTO
author_role author
author2 CARVALHO,ALZIRA A.S.
FONSECA,LUIZ FERNANDO
CARVALHO,MARY S.
REED,UMBERTINA C.
SCAFF,MILBERTO
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv MARIE,SUELY K.NAGAHASHI
CARVALHO,ALZIRA A.S.
FONSECA,LUIZ FERNANDO
CARVALHO,MARY S.
REED,UMBERTINA C.
SCAFF,MILBERTO
dc.subject.por.fl_str_mv Kearns-Sayre syndrome
dystonia
mitochondrial DNA deletion
topic Kearns-Sayre syndrome
dystonia
mitochondrial DNA deletion
description We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
publishDate 1999
dc.date.none.fl_str_mv 1999-12-01
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=S0004-282X1999000600020
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600020
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X1999000600020
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.57 n.4 1999
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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