Aicardi syndrome: a case report
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Revista Brasileira de Saúde Materno Infantil (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292018000400835 |
Resumo: | Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition. |
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Aicardi syndrome: a case reportAicardi's syndromeAgenesis of the corpus callosumInfantile spasmsChorioretinal lacunaeAbstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition.Instituto de Medicina Integral Prof. Fernando Figueira2018-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292018000400835Revista Brasileira de Saúde Materno Infantil v.18 n.4 2018reponame:Revista Brasileira de Saúde Materno Infantil (Online)instname:Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF)instacron:IMIPFF10.1590/1806-93042018000400009info:eu-repo/semantics/openAccessMenezes,Jean Carlos de OliveiraSilva,Francisco Elvis Farias daFélix,Érica GaldinoAlchieri,João CarlosSilva,Joelma Gomes daeng2019-01-14T00:00:00Zoai:scielo:S1519-38292018000400835Revistahttp://www.scielo.br/rbsmihttps://old.scielo.br/oai/scielo-oai.php||revista@imip.org.br1806-93041519-3829opendoar:2019-01-14T00:00Revista Brasileira de Saúde Materno Infantil (Online) - Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF)false |
dc.title.none.fl_str_mv |
Aicardi syndrome: a case report |
title |
Aicardi syndrome: a case report |
spellingShingle |
Aicardi syndrome: a case report Menezes,Jean Carlos de Oliveira Aicardi's syndrome Agenesis of the corpus callosum Infantile spasms Chorioretinal lacunae |
title_short |
Aicardi syndrome: a case report |
title_full |
Aicardi syndrome: a case report |
title_fullStr |
Aicardi syndrome: a case report |
title_full_unstemmed |
Aicardi syndrome: a case report |
title_sort |
Aicardi syndrome: a case report |
author |
Menezes,Jean Carlos de Oliveira |
author_facet |
Menezes,Jean Carlos de Oliveira Silva,Francisco Elvis Farias da Félix,Érica Galdino Alchieri,João Carlos Silva,Joelma Gomes da |
author_role |
author |
author2 |
Silva,Francisco Elvis Farias da Félix,Érica Galdino Alchieri,João Carlos Silva,Joelma Gomes da |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Menezes,Jean Carlos de Oliveira Silva,Francisco Elvis Farias da Félix,Érica Galdino Alchieri,João Carlos Silva,Joelma Gomes da |
dc.subject.por.fl_str_mv |
Aicardi's syndrome Agenesis of the corpus callosum Infantile spasms Chorioretinal lacunae |
topic |
Aicardi's syndrome Agenesis of the corpus callosum Infantile spasms Chorioretinal lacunae |
description |
Abstract Introduction: the Aicardi syndrome (SA) is characterized as a rare syndrome identified in the presence of three classic characteristics: corpus callosum agenesis, chorioretinal lacunaeand infantile spasms. Description: data collection involved information reported by the mother and the accompanying physiotherapist describing the patient's clinical history andmajor complications according to clinical evolution, treatment, and therapeutic response. At two months of age, the child presented a delayed neuropsychomotor development and infantile spasms.However,the diagnosis of the syndrome was only performed at six months of life, involving brain magnetic resonance imaging where corneal body agenesis was observed. A multidisciplinary treatment was assembledwith a neuropediatrician, a physiotherapist, a psychologist, a nutritionistand a speech therapist, besides drug treatment with baclofen and phenobarbital. Discussion: through the established treatment, the child displayedmotor gain, cervical control, improvement of the respiratory condition, and no need forhospital admissions;these outcomescharacterizea good clinical evolution associated with the physiotherapeutic intervention focused on prevention and minimization of respiratory alterationsthatare frequently associated with morbidity and mortality in these cases. The results obtained point out the fundamental role of multidisciplinary intervention in coping with this condition. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292018000400835 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1519-38292018000400835 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1806-93042018000400009 |
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 |
Instituto de Medicina Integral Prof. Fernando Figueira |
publisher.none.fl_str_mv |
Instituto de Medicina Integral Prof. Fernando Figueira |
dc.source.none.fl_str_mv |
Revista Brasileira de Saúde Materno Infantil v.18 n.4 2018 reponame:Revista Brasileira de Saúde Materno Infantil (Online) instname:Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF) instacron:IMIPFF |
instname_str |
Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF) |
instacron_str |
IMIPFF |
institution |
IMIPFF |
reponame_str |
Revista Brasileira de Saúde Materno Infantil (Online) |
collection |
Revista Brasileira de Saúde Materno Infantil (Online) |
repository.name.fl_str_mv |
Revista Brasileira de Saúde Materno Infantil (Online) - Instituto de Medicina Integral Prof. Fernando Figueira (IMIPFF) |
repository.mail.fl_str_mv |
||revista@imip.org.br |
_version_ |
1752129929954197504 |