Kearns-Sayre syndrome "plus": classical clinical findings and dystonia
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 prot...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
1999-01-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600020 |
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| author | MARIE SUELY K.NAGAHASHI CARVALHO ALZIRA A.S. FONSECA LUIZ FERNANDO CARVALHO MARY S. REED UMBERTINA C. SCAFF MILBERTO |
| author_facet | MARIE SUELY K.NAGAHASHI CARVALHO ALZIRA A.S. FONSECA LUIZ FERNANDO CARVALHO MARY S. REED UMBERTINA C. SCAFF MILBERTO |
| author_sort | MARIE SUELY K.NAGAHASHI |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-0e44d356b83a45748c939d9c29b549c3 |
| institution | DOAJ |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 1999-01-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-0e44d356b83a45748c939d9c29b549c32025-08-20T03:17:19ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42271999-01-0157410171023Kearns-Sayre syndrome "plus": classical clinical findings and dystoniaMARIE SUELY K.NAGAHASHICARVALHO ALZIRA A.S.FONSECA LUIZ FERNANDOCARVALHO MARY S.REED UMBERTINA C.SCAFF MILBERTOWe 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600020Kearns-Sayre syndromedystoniamitochondrial DNA deletion |
| spellingShingle | MARIE SUELY K.NAGAHASHI CARVALHO ALZIRA A.S. FONSECA LUIZ FERNANDO CARVALHO MARY S. REED UMBERTINA C. SCAFF MILBERTO Kearns-Sayre syndrome "plus": classical clinical findings and dystonia Arquivos de Neuro-Psiquiatria Kearns-Sayre syndrome dystonia mitochondrial DNA deletion |
| title | 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_short | Kearns-Sayre syndrome "plus": classical clinical findings and dystonia |
| title_sort | kearns sayre syndrome plus classical clinical findings and dystonia |
| topic | Kearns-Sayre syndrome dystonia mitochondrial DNA deletion |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000600020 |
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