Epilepsy and ring chromosome 20: case report
We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardati...
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Thieme Revinter Publicações
2002-01-01
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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=S0004-282X2002000400022 |
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| author | Gomes Marleide da Mota Lucca Irene Bezerra Sonia Alonso Monteiro Llerena Jr Juan Moreira Denise Madeira |
| author_facet | Gomes Marleide da Mota Lucca Irene Bezerra Sonia Alonso Monteiro Llerena Jr Juan Moreira Denise Madeira |
| author_sort | Gomes Marleide da Mota |
| collection | DOAJ |
| description | We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are brain anomalies characterised by corpus callosum, uvula, nodule and cerebellum pyramid hypoplasias, besides arachnoid cysts in the occipital region. He had seizures refractory to pharmacotherapy and long period of confusional status with or without a motor component. The authors recognised that the EEG pattern was not fixed but changed over time, specially for bursts of slow waves with great amplitude accompanied or not by sharp components, and bursts of theta waves sharply contoured. Previously, epilepsy solely has been assigned to region 20q13. However, the important structural cerebral alterations present in our case has not been reported associated to such chromosomal abnormality and may indicate possible new chromosomal sites where such atypical neurological characteristics could be mapped. |
| format | Article |
| id | doaj-art-010232ee13f04a42a376ea17844b95a1 |
| institution | DOAJ |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 2002-01-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-010232ee13f04a42a376ea17844b95a12025-08-20T03:22:31ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42272002-01-01603A631635Epilepsy and ring chromosome 20: case reportGomes Marleide da MotaLucca IreneBezerra Sonia Alonso MonteiroLlerena Jr JuanMoreira Denise MadeiraWe present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are brain anomalies characterised by corpus callosum, uvula, nodule and cerebellum pyramid hypoplasias, besides arachnoid cysts in the occipital region. He had seizures refractory to pharmacotherapy and long period of confusional status with or without a motor component. The authors recognised that the EEG pattern was not fixed but changed over time, specially for bursts of slow waves with great amplitude accompanied or not by sharp components, and bursts of theta waves sharply contoured. Previously, epilepsy solely has been assigned to region 20q13. However, the important structural cerebral alterations present in our case has not been reported associated to such chromosomal abnormality and may indicate possible new chromosomal sites where such atypical neurological characteristics could be mapped.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000400022ring chromosome 20epilepsymental retardation |
| spellingShingle | Gomes Marleide da Mota Lucca Irene Bezerra Sonia Alonso Monteiro Llerena Jr Juan Moreira Denise Madeira Epilepsy and ring chromosome 20: case report Arquivos de Neuro-Psiquiatria ring chromosome 20 epilepsy mental retardation |
| title | Epilepsy and ring chromosome 20: case report |
| title_full | Epilepsy and ring chromosome 20: case report |
| title_fullStr | Epilepsy and ring chromosome 20: case report |
| title_full_unstemmed | Epilepsy and ring chromosome 20: case report |
| title_short | Epilepsy and ring chromosome 20: case report |
| title_sort | epilepsy and ring chromosome 20 case report |
| topic | ring chromosome 20 epilepsy mental retardation |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000400022 |
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