Non-epileptic myoclonus and mitochondrial encephalomyopathy
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 a...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
1989-09-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000300016&lng=en&tlng=en |
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| author | A. Cukiert F. G. M. Naylor H. B. Scapolan M. M. Vilela F. S. Aloe J. O. Siffert Ana M. Tsanaglis Monica Haddad Teresa C. Machado Mary Carvalho-Alegro J. A. Levy L. Marques-Assis |
| author_facet | A. Cukiert F. G. M. Naylor H. B. Scapolan M. M. Vilela F. S. Aloe J. O. Siffert Ana M. Tsanaglis Monica Haddad Teresa C. Machado Mary Carvalho-Alegro J. A. Levy L. Marques-Assis |
| author_sort | A. Cukiert |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-c56b778804ab416f9cece5077ddff461 |
| institution | DOAJ |
| issn | 1678-4227 |
| language | English |
| publishDate | 1989-09-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-c56b778804ab416f9cece5077ddff4612025-08-20T03:22:42ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42271989-09-0147334635110.1590/S0004-282X1989000300016S0004-282X1989000300016Non-epileptic myoclonus and mitochondrial encephalomyopathyA. Cukiert0F. G. M. Naylor1H. B. Scapolan2M. M. Vilela3F. S. Aloe4J. O. Siffert5Ana M. Tsanaglis6Monica HaddadTeresa C. Machado7Mary Carvalho-Alegro8J. A. Levy9L. Marques-Assis10Universidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloUniversidade de São PauloTwo 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000300016&lng=en&tlng=en |
| spellingShingle | A. Cukiert F. G. M. Naylor H. B. Scapolan M. M. Vilela F. S. Aloe J. O. Siffert Ana M. Tsanaglis Monica Haddad Teresa C. Machado Mary Carvalho-Alegro J. A. Levy L. Marques-Assis Non-epileptic myoclonus and mitochondrial encephalomyopathy Arquivos de Neuro-Psiquiatria |
| title | 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_short | Non-epileptic myoclonus and mitochondrial encephalomyopathy |
| title_sort | non epileptic myoclonus and mitochondrial encephalomyopathy |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1989000300016&lng=en&tlng=en |
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