Non-epileptic myoclonus and mitochondrial encephalomyopathy
Autor(a) principal: | |
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Data de Publicação: | 1989 |
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=S0004-282X1989000300016 |
Resumo: | Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases, Intermitent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a. subcortical origin for this type of myoclonic syndrome. |
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Arquivos de neuro-psiquiatria (Online) |
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Non-epileptic myoclonus and mitochondrial encephalomyopathyTwo brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases, Intermitent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a. subcortical origin for this type of myoclonic syndrome.Academia Brasileira de Neurologia - ABNEURO1989-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000300016Arquivos de Neuro-Psiquiatria v.47 n.3 1989reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/S0004-282X1989000300016info:eu-repo/semantics/openAccessCukiert,A.Naylor,F. G. M.Scapolan,H. B.Vilela,M. M.Aloe,F. S.Siffert,J. O.Tsanaglis,Ana M.Haddad,MonicaMachado,Teresa C.Carvalho-Alegro,MaryLevy,J. A.Marques-Assis,L.eng2011-06-06T00:00:00Zoai:scielo:S0004-282X1989000300016Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2011-06-06T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
title |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
spellingShingle |
Non-epileptic myoclonus and mitochondrial encephalomyopathy Cukiert,A. |
title_short |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
title_full |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
title_fullStr |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
title_full_unstemmed |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
title_sort |
Non-epileptic myoclonus and mitochondrial encephalomyopathy |
author |
Cukiert,A. |
author_facet |
Cukiert,A. Naylor,F. G. M. Scapolan,H. B. Vilela,M. M. Aloe,F. S. Siffert,J. O. Tsanaglis,Ana M. Haddad,Monica Machado,Teresa C. Carvalho-Alegro,Mary Levy,J. A. Marques-Assis,L. |
author_role |
author |
author2 |
Naylor,F. G. M. Scapolan,H. B. Vilela,M. M. Aloe,F. S. Siffert,J. O. Tsanaglis,Ana M. Haddad,Monica Machado,Teresa C. Carvalho-Alegro,Mary Levy,J. A. Marques-Assis,L. |
author2_role |
author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Cukiert,A. Naylor,F. G. M. Scapolan,H. B. Vilela,M. M. Aloe,F. S. Siffert,J. O. Tsanaglis,Ana M. Haddad,Monica Machado,Teresa C. Carvalho-Alegro,Mary Levy,J. A. Marques-Assis,L. |
description |
Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases, Intermitent photic stimulation increased the frequency of the myoclonic jerks, which became bilateral and synchronous, progressing to a generalized tonic-clonic seizure. EPs and MRI in one case were normal. Anticonvulsant drugs were ineffective. The diagnosis of mitochondrial encephalomyopathy was based on the finding, in muscle specimens, of thickened basement membranes with myofibrillary degeneration and increased number of mitochondria peripherally distributed and with a dense granular matrix and some vacuoles. The clinical and EEG data suggest a. subcortical origin for this type of myoclonic syndrome. |
publishDate |
1989 |
dc.date.none.fl_str_mv |
1989-09-01 |
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=S0004-282X1989000300016 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000300016 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0004-282X1989000300016 |
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.47 n.3 1989 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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1754212747037376512 |