King-Denborough Syndrome: report of two Brazilian cases

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.

Saved in:
Bibliographic Details
Main Authors: Reed,Umbertina Conti, Resende,Maria Bernardete Dutra, Ferreira,Lúcio Gobbo, Carvalho,Mary Souza, Diament,Aron, Scaff,Milberto, Marie,Suely Kazue Nagahashi
Format: Digital revista
Language:English
Published: Academia Brasileira de Neurologia - ABNEURO 2002
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011
Tags: Add Tag
No Tags, Be the first to tag this record!
id oai:scielo:S0004-282X2002000500011
record_format ojs
spelling oai:scielo:S0004-282X20020005000112002-10-01King-Denborough Syndrome: report of two Brazilian casesReed,Umbertina ContiResende,Maria Bernardete DutraFerreira,Lúcio GobboCarvalho,Mary SouzaDiament,AronScaff,MilbertoMarie,Suely Kazue Nagahashi King-Denborough syndrome congenital myopathy malignant hyperthermia 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.60 n.3B 20022002-09-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011en10.1590/S0004-282X2002000500011
institution SCIELO
collection OJS
country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Reed,Umbertina Conti
Resende,Maria Bernardete Dutra
Ferreira,Lúcio Gobbo
Carvalho,Mary Souza
Diament,Aron
Scaff,Milberto
Marie,Suely Kazue Nagahashi
spellingShingle Reed,Umbertina Conti
Resende,Maria Bernardete Dutra
Ferreira,Lúcio Gobbo
Carvalho,Mary Souza
Diament,Aron
Scaff,Milberto
Marie,Suely Kazue Nagahashi
King-Denborough Syndrome: report of two Brazilian cases
author_facet Reed,Umbertina Conti
Resende,Maria Bernardete Dutra
Ferreira,Lúcio Gobbo
Carvalho,Mary Souza
Diament,Aron
Scaff,Milberto
Marie,Suely Kazue Nagahashi
author_sort Reed,Umbertina Conti
title King-Denborough Syndrome: report of two Brazilian cases
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
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.
publisher Academia Brasileira de Neurologia - ABNEURO
publishDate 2002
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000500011
work_keys_str_mv AT reedumbertinaconti kingdenboroughsyndromereportoftwobraziliancases
AT resendemariabernardetedutra kingdenboroughsyndromereportoftwobraziliancases
AT ferreiraluciogobbo kingdenboroughsyndromereportoftwobraziliancases
AT carvalhomarysouza kingdenboroughsyndromereportoftwobraziliancases
AT diamentaron kingdenboroughsyndromereportoftwobraziliancases
AT scaffmilberto kingdenboroughsyndromereportoftwobraziliancases
AT mariesuelykazuenagahashi kingdenboroughsyndromereportoftwobraziliancases
_version_ 1756374215910490112