Caso electroencefalográfico
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , |
Tipo de documento: | Relatório |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542011000400013 |
Resumo: | Introduction: The suppression-burst (SB) electroencephalographic pattern is rather common during the neonatal period and suggests severe encephalopathy. When significant hypoxic-ischemic insult is excluded, brain malformations and metabolic disorders have to be ruled out. Two distinctive epileptic syndromes are described: early epileptic encephalopathy with SB (Ohtahara syndrome) and early myoclonic epilepsy (EME). The later is frequently associated with neurometabolic disorders, one of the most common being nonketotic hyperglycinemia (NKH). Case report: A baby girl presented with multiple erratic clonic and myoclonic seizures from the second day of life, refractory to antiepileptic drugs. She was hypotonic, lethargic and had episodes of apnea. The electroencephalogram (EEG) showed multiple bursts of multifocal epileptiform activity with long periods of almost flat tracing; this pattern persisted beyond the neonatal period, it was present at the last EEG performed at age four months. Barbiturate-induced coma with mechanical ventilation was induced. She died at the age of five months. The second but not the first sample of cerebrospinal fluid (CSF) and blood revealed an increased CSF/serum glycine ratio (0,11 - normal<0,03). Post-morten liver tissue biopsy found a deficit at the glycine cleavage system (GCS) (6,6 mkat/ kg - normal 45,0-195,0) and molecular studies detected a mutation in the gene GLDC molecular testing. This result allowed better parents genetic counseling. Conclusions: Early myoclonic epilepsy presents with multifocal seizures and SB on pattern on the EEG in the neonatal period, metabolic causes must be investigated, namely the neonatal form of NHK. CSF and plasma aminoacids, including glycine levels, should be measured, simultaneously and sometimes repeatedly. Enzymatic and molecular analysis may confirm this diagnosis and are useful for parents genetic counseling. |
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Caso electroencefalográficoSupression-burst EEG patternearly myoclonic epilepsynonketotic hyperglycinemiaIntroduction: The suppression-burst (SB) electroencephalographic pattern is rather common during the neonatal period and suggests severe encephalopathy. When significant hypoxic-ischemic insult is excluded, brain malformations and metabolic disorders have to be ruled out. Two distinctive epileptic syndromes are described: early epileptic encephalopathy with SB (Ohtahara syndrome) and early myoclonic epilepsy (EME). The later is frequently associated with neurometabolic disorders, one of the most common being nonketotic hyperglycinemia (NKH). Case report: A baby girl presented with multiple erratic clonic and myoclonic seizures from the second day of life, refractory to antiepileptic drugs. She was hypotonic, lethargic and had episodes of apnea. The electroencephalogram (EEG) showed multiple bursts of multifocal epileptiform activity with long periods of almost flat tracing; this pattern persisted beyond the neonatal period, it was present at the last EEG performed at age four months. Barbiturate-induced coma with mechanical ventilation was induced. She died at the age of five months. The second but not the first sample of cerebrospinal fluid (CSF) and blood revealed an increased CSF/serum glycine ratio (0,11 - normal<0,03). Post-morten liver tissue biopsy found a deficit at the glycine cleavage system (GCS) (6,6 mkat/ kg - normal 45,0-195,0) and molecular studies detected a mutation in the gene GLDC molecular testing. This result allowed better parents genetic counseling. Conclusions: Early myoclonic epilepsy presents with multifocal seizures and SB on pattern on the EEG in the neonatal period, metabolic causes must be investigated, namely the neonatal form of NHK. CSF and plasma aminoacids, including glycine levels, should be measured, simultaneously and sometimes repeatedly. Enzymatic and molecular analysis may confirm this diagnosis and are useful for parents genetic counseling.Centro Hospitalar do Porto2011-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542011000400013Nascer e Crescer v.20 n.4 2011reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542011000400013Monteiro,TâniaMartins,EsmeraldaChorão,Ruiinfo:eu-repo/semantics/openAccess2024-02-06T17:05:28Zoai:scielo:S0872-07542011000400013Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:15.347283Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Caso electroencefalográfico |
title |
Caso electroencefalográfico |
spellingShingle |
Caso electroencefalográfico Monteiro,Tânia Supression-burst EEG pattern early myoclonic epilepsy nonketotic hyperglycinemia |
title_short |
Caso electroencefalográfico |
title_full |
Caso electroencefalográfico |
title_fullStr |
Caso electroencefalográfico |
title_full_unstemmed |
Caso electroencefalográfico |
title_sort |
Caso electroencefalográfico |
author |
Monteiro,Tânia |
author_facet |
Monteiro,Tânia Martins,Esmeralda Chorão,Rui |
author_role |
author |
author2 |
Martins,Esmeralda Chorão,Rui |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Monteiro,Tânia Martins,Esmeralda Chorão,Rui |
dc.subject.por.fl_str_mv |
Supression-burst EEG pattern early myoclonic epilepsy nonketotic hyperglycinemia |
topic |
Supression-burst EEG pattern early myoclonic epilepsy nonketotic hyperglycinemia |
description |
Introduction: The suppression-burst (SB) electroencephalographic pattern is rather common during the neonatal period and suggests severe encephalopathy. When significant hypoxic-ischemic insult is excluded, brain malformations and metabolic disorders have to be ruled out. Two distinctive epileptic syndromes are described: early epileptic encephalopathy with SB (Ohtahara syndrome) and early myoclonic epilepsy (EME). The later is frequently associated with neurometabolic disorders, one of the most common being nonketotic hyperglycinemia (NKH). Case report: A baby girl presented with multiple erratic clonic and myoclonic seizures from the second day of life, refractory to antiepileptic drugs. She was hypotonic, lethargic and had episodes of apnea. The electroencephalogram (EEG) showed multiple bursts of multifocal epileptiform activity with long periods of almost flat tracing; this pattern persisted beyond the neonatal period, it was present at the last EEG performed at age four months. Barbiturate-induced coma with mechanical ventilation was induced. She died at the age of five months. The second but not the first sample of cerebrospinal fluid (CSF) and blood revealed an increased CSF/serum glycine ratio (0,11 - normal<0,03). Post-morten liver tissue biopsy found a deficit at the glycine cleavage system (GCS) (6,6 mkat/ kg - normal 45,0-195,0) and molecular studies detected a mutation in the gene GLDC molecular testing. This result allowed better parents genetic counseling. Conclusions: Early myoclonic epilepsy presents with multifocal seizures and SB on pattern on the EEG in the neonatal period, metabolic causes must be investigated, namely the neonatal form of NHK. CSF and plasma aminoacids, including glycine levels, should be measured, simultaneously and sometimes repeatedly. Enzymatic and molecular analysis may confirm this diagnosis and are useful for parents genetic counseling. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-01-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542011000400013 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542011000400013 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542011000400013 |
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 |
Centro Hospitalar do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar do Porto |
dc.source.none.fl_str_mv |
Nascer e Crescer v.20 n.4 2011 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799137282334130176 |