Epilepsia por dependência de piridoxina: um relato de caso
Pyridoxine-dependent epilepsy (EDP) is an autosomal recessive disease clinically represented by recurrent seizures. The diagnosis is made by clinical observation, and may be assisted by electroencephalography (EEG) and biochemical and genetic tests. The aim of this work was to report the case of an...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Pediatria
2023-06-01
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| Series: | Residência Pediátrica |
| Subjects: | |
| Online Access: | https://residenciapediatrica.com.br/detalhes/1399/epilepsia%20por%20dependencia%20de%20piridoxina-%20um%20relato%20de%20caso |
| _version_ | 1797454825419440128 |
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| author | Larissa Magalhães de Paiva Luigi Neves Reis Rinara Grossi de Andrade Shaira Salvadora Brito Giulia Antunes Chieppe Isabela Bernardino Freire |
| author_facet | Larissa Magalhães de Paiva Luigi Neves Reis Rinara Grossi de Andrade Shaira Salvadora Brito Giulia Antunes Chieppe Isabela Bernardino Freire |
| author_sort | Larissa Magalhães de Paiva |
| collection | DOAJ |
| description | Pyridoxine-dependent epilepsy (EDP) is an autosomal recessive disease clinically represented by recurrent seizures. The diagnosis is made by clinical observation, and may be assisted by electroencephalography (EEG) and biochemical and genetic tests. The aim of this work was to report the case of an infant patient with epilepsy due to pyridoxine dependence, using the methods of analysis of clinical history data, physical examination, therapeutic response, with simultaneous laboratory investigation and image analysis. In the face of a neonatal convulsive crisis immune to the instituted anticonvulsants and, with laboratory and imaging exams without changes, the introduction of pyridoxine brought clinical improvement, allowing the discontinuation of the other drugs in use. The reported case reinforces the importance of investigating neonatal seizures for the correct diagnosis and treatment. |
| first_indexed | 2024-03-09T15:43:42Z |
| format | Article |
| id | doaj.art-492dbdcb607043678f2b9adff4d7e0bb |
| institution | Directory Open Access Journal |
| issn | 2236-6814 |
| language | English |
| last_indexed | 2024-03-09T15:43:42Z |
| publishDate | 2023-06-01 |
| publisher | Sociedade Brasileira de Pediatria |
| record_format | Article |
| series | Residência Pediátrica |
| spelling | doaj.art-492dbdcb607043678f2b9adff4d7e0bb2023-11-24T19:39:43ZengSociedade Brasileira de PediatriaResidência Pediátrica2236-68142023-06-0113310.25060/residpediatr-2023.v13n3-600Epilepsia por dependência de piridoxina: um relato de casoLarissa Magalhães de Paiva0Luigi Neves Reis1Rinara Grossi de Andrade2Shaira Salvadora Brito3Giulia Antunes Chieppe4Isabela Bernardino Freire5Hospital Municipal de Governador Valadares, Residente de Pediatria - Governador Valadares - Minas Gerais - BrasilHospital Municipal de Governador Valadares, Neurologista Pediátrico - Governador Valadares - Minas Gerais - BrasilHospital Municipal de Governador Valadares, Pediatra - Governador Valadares - Minas Gerais - BrasilUniversidade Vila Velha, Graduanda do curso de Medicina - Vila Velha - Espírito Santo - Brasil.Universidade Vila Velha, Graduanda do curso de Medicina - Vila Velha - Espírito Santo - Brasil.Universidade Vila Velha, Graduanda do curso de Medicina - Vila Velha - Espírito Santo - Brasil.Pyridoxine-dependent epilepsy (EDP) is an autosomal recessive disease clinically represented by recurrent seizures. The diagnosis is made by clinical observation, and may be assisted by electroencephalography (EEG) and biochemical and genetic tests. The aim of this work was to report the case of an infant patient with epilepsy due to pyridoxine dependence, using the methods of analysis of clinical history data, physical examination, therapeutic response, with simultaneous laboratory investigation and image analysis. In the face of a neonatal convulsive crisis immune to the instituted anticonvulsants and, with laboratory and imaging exams without changes, the introduction of pyridoxine brought clinical improvement, allowing the discontinuation of the other drugs in use. The reported case reinforces the importance of investigating neonatal seizures for the correct diagnosis and treatment.https://residenciapediatrica.com.br/detalhes/1399/epilepsia%20por%20dependencia%20de%20piridoxina-%20um%20relato%20de%20casoepilepsyseizurespyridoxine |
| spellingShingle | Larissa Magalhães de Paiva Luigi Neves Reis Rinara Grossi de Andrade Shaira Salvadora Brito Giulia Antunes Chieppe Isabela Bernardino Freire Epilepsia por dependência de piridoxina: um relato de caso Residência Pediátrica epilepsy seizures pyridoxine |
| title | Epilepsia por dependência de piridoxina: um relato de caso |
| title_full | Epilepsia por dependência de piridoxina: um relato de caso |
| title_fullStr | Epilepsia por dependência de piridoxina: um relato de caso |
| title_full_unstemmed | Epilepsia por dependência de piridoxina: um relato de caso |
| title_short | Epilepsia por dependência de piridoxina: um relato de caso |
| title_sort | epilepsia por dependencia de piridoxina um relato de caso |
| topic | epilepsy seizures pyridoxine |
| url | https://residenciapediatrica.com.br/detalhes/1399/epilepsia%20por%20dependencia%20de%20piridoxina-%20um%20relato%20de%20caso |
| work_keys_str_mv | AT larissamagalhaesdepaiva epilepsiapordependenciadepiridoxinaumrelatodecaso AT luiginevesreis epilepsiapordependenciadepiridoxinaumrelatodecaso AT rinaragrossideandrade epilepsiapordependenciadepiridoxinaumrelatodecaso AT shairasalvadorabrito epilepsiapordependenciadepiridoxinaumrelatodecaso AT giuliaantuneschieppe epilepsiapordependenciadepiridoxinaumrelatodecaso AT isabelabernardinofreire epilepsiapordependenciadepiridoxinaumrelatodecaso |