King-Denborough Syndrome: report of two Brazilian cases

Detalhes bibliográficos
Autor(a) principal: Reed,Umbertina Conti
Data de Publicação: 2002
Outros Autores: Resende,Maria Bernardete Dutra, Ferreira,Lúcio Gobbo, Carvalho,Mary Souza, Diament,Aron, Scaff,Milberto, Marie,Suely Kazue Nagahashi
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=S0004-282X2002000500011
Resumo: We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.
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spelling King-Denborough Syndrome: report of two Brazilian casesKing-Denborough syndromecongenital myopathymalignant hyperthermiaWe report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.Academia Brasileira de Neurologia - ABNEURO2002-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011Arquivos de Neuro-Psiquiatria v.60 n.3B 2002reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X2002000500011info:eu-repo/semantics/openAccessReed,Umbertina ContiResende,Maria Bernardete DutraFerreira,Lúcio GobboCarvalho,Mary SouzaDiament,AronScaff,MilbertoMarie,Suely Kazue Nagahashieng2002-10-01T00:00:00Zoai:scielo:S0004-282X2002000500011Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2002-10-01T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse
dc.title.none.fl_str_mv King-Denborough Syndrome: report of two Brazilian cases
title King-Denborough Syndrome: report of two Brazilian cases
spellingShingle King-Denborough Syndrome: report of two Brazilian cases
Reed,Umbertina Conti
King-Denborough syndrome
congenital myopathy
malignant hyperthermia
title_short King-Denborough Syndrome: report of two Brazilian cases
title_full King-Denborough Syndrome: report of two Brazilian cases
title_fullStr King-Denborough Syndrome: report of two Brazilian cases
title_full_unstemmed King-Denborough Syndrome: report of two Brazilian cases
title_sort King-Denborough Syndrome: report of two Brazilian cases
author Reed,Umbertina Conti
author_facet Reed,Umbertina Conti
Resende,Maria Bernardete Dutra
Ferreira,Lúcio Gobbo
Carvalho,Mary Souza
Diament,Aron
Scaff,Milberto
Marie,Suely Kazue Nagahashi
author_role author
author2 Resende,Maria Bernardete Dutra
Ferreira,Lúcio Gobbo
Carvalho,Mary Souza
Diament,Aron
Scaff,Milberto
Marie,Suely Kazue Nagahashi
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Reed,Umbertina Conti
Resende,Maria Bernardete Dutra
Ferreira,Lúcio Gobbo
Carvalho,Mary Souza
Diament,Aron
Scaff,Milberto
Marie,Suely Kazue Nagahashi
dc.subject.por.fl_str_mv King-Denborough syndrome
congenital myopathy
malignant hyperthermia
topic King-Denborough syndrome
congenital myopathy
malignant hyperthermia
description We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.
publishDate 2002
dc.date.none.fl_str_mv 2002-09-01
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=S0004-282X2002000500011
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-282X2002000500011
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.60 n.3B 2002
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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