Coarse face, hypotonia, and neurodevelopmental regression

Detalhes bibliográficos
Autor(a) principal: Miranda, Ana Margalha
Data de Publicação: 2020
Outros Autores: Ezequiel, Marta, Luís, Catarina, Dupont, Juliette, Gaspar, Paulo, Vilarinho, Laura, Janeiro, Patrícia, Gaspar, Ana
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
DOI: 10.25753/BirthGrowthMJ.v29.i2.15184
Texto Completo: https://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184
Resumo: Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.
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spelling Coarse face, hypotonia, and neurodevelopmental regressionFace grosseira, hipotonia e regressão do neurodesenvolvimentoCase ReportsInborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.Os erros hereditários do metabolismo são um grupo de doenças heterogéneas e multissistémicas. Apesar de cada doença individualmente ser rara, no seu conjunto são relativamente comuns. O sistema nervoso central é habitualmente afetado. Os autores apresentam o caso de uma lactente de cinco meses de idade, filha de pais não consanguíneos, nascida de uma gravidez de termo e parto sem intercorrências. Aos cinco meses, iniciou um quadro de hipotonia e regressão do desenvolvimento, apresentando ao longo do tempo dismorfismo facial, hepatomegália, convulsões e cardiomiopatia dilatada. O diagnóstico de Gangliosidose tipo 1 foi confirmado por achados bioquímicos, enzimáticos e genéticos. Este caso clínico reforça a relevância de uma abordagem e seguimento multidisciplinares.Unidade Local de Saúde de Santo António2020-06-26info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184eng2183-9417Miranda, Ana MargalhaEzequiel, MartaLuís, CatarinaDupont, JulietteGaspar, PauloVilarinho, LauraJaneiro, PatríciaGaspar, Anainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-05-07T09:44:15Zoai:ojs.revistas.rcaap.pt:article/15184Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-07T09:44:15Repositório 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 Coarse face, hypotonia, and neurodevelopmental regression
Face grosseira, hipotonia e regressão do neurodesenvolvimento
title Coarse face, hypotonia, and neurodevelopmental regression
spellingShingle Coarse face, hypotonia, and neurodevelopmental regression
Coarse face, hypotonia, and neurodevelopmental regression
Miranda, Ana Margalha
Case Reports
Miranda, Ana Margalha
Case Reports
title_short Coarse face, hypotonia, and neurodevelopmental regression
title_full Coarse face, hypotonia, and neurodevelopmental regression
title_fullStr Coarse face, hypotonia, and neurodevelopmental regression
Coarse face, hypotonia, and neurodevelopmental regression
title_full_unstemmed Coarse face, hypotonia, and neurodevelopmental regression
Coarse face, hypotonia, and neurodevelopmental regression
title_sort Coarse face, hypotonia, and neurodevelopmental regression
author Miranda, Ana Margalha
author_facet Miranda, Ana Margalha
Miranda, Ana Margalha
Ezequiel, Marta
Luís, Catarina
Dupont, Juliette
Gaspar, Paulo
Vilarinho, Laura
Janeiro, Patrícia
Gaspar, Ana
Ezequiel, Marta
Luís, Catarina
Dupont, Juliette
Gaspar, Paulo
Vilarinho, Laura
Janeiro, Patrícia
Gaspar, Ana
author_role author
author2 Ezequiel, Marta
Luís, Catarina
Dupont, Juliette
Gaspar, Paulo
Vilarinho, Laura
Janeiro, Patrícia
Gaspar, Ana
author2_role author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Miranda, Ana Margalha
Ezequiel, Marta
Luís, Catarina
Dupont, Juliette
Gaspar, Paulo
Vilarinho, Laura
Janeiro, Patrícia
Gaspar, Ana
dc.subject.por.fl_str_mv Case Reports
topic Case Reports
description Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.
publishDate 2020
dc.date.none.fl_str_mv 2020-06-26
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184
url https://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2183-9417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Unidade Local de Saúde de Santo António
publisher.none.fl_str_mv Unidade Local de Saúde de Santo António
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str 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
repository.mail.fl_str_mv mluisa.alvim@gmail.com
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dc.identifier.doi.none.fl_str_mv 10.25753/BirthGrowthMJ.v29.i2.15184

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