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)
Texto Completo: http://hdl.handle.net/10400.16/2420
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 neurodesenvolvimentoCoarse faciesdevelopmental regressionGangliosidosishypotonialysosomal storage diseaseInborn 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.Centro Hospitalar Universitário do PortoRepositório Científico do Centro Hospitalar Universitário de Santo AntónioMiranda, Ana MargalhaEzequiel, MartaLuís, CatarinaDupont, JulietteGaspar, PauloVilarinho, LauraJaneiro, PatríciaGaspar, Ana2020-07-14T14:07:45Z2020-06-152020-06-15T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2420engNascer e Crescer - Birth and Growth Medical Journal 2020;29(2): 117-120. doi:10.25753/BirthGrowthMJ.v29.i2.1518410.25753/BirthGrowthMJ.v29.i2.151842183-9417info: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:RCAAP2023-10-20T11:00:38Zoai:repositorio.chporto.pt:10400.16/2420Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:37.017015Repositório 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
Miranda, Ana Margalha
Coarse facies
developmental regression
Gangliosidosis
hypotonia
lysosomal storage disease
title_short Coarse face, hypotonia, and neurodevelopmental regression
title_full Coarse face, hypotonia, and neurodevelopmental regression
title_fullStr Coarse face, hypotonia, and neurodevelopmental regression
title_full_unstemmed Coarse face, hypotonia, and neurodevelopmental regression
title_sort Coarse face, hypotonia, and neurodevelopmental regression
author Miranda, Ana Margalha
author_facet Miranda, Ana Margalha
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.none.fl_str_mv Repositório Científico do Centro Hospitalar Universitário de Santo António
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 Coarse facies
developmental regression
Gangliosidosis
hypotonia
lysosomal storage disease
topic Coarse facies
developmental regression
Gangliosidosis
hypotonia
lysosomal storage disease
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 2020-07-14T14:07:45Z
2020-06-15
2020-06-15T00:00:00Z
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 http://hdl.handle.net/10400.16/2420
url http://hdl.handle.net/10400.16/2420
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Nascer e Crescer - Birth and Growth Medical Journal 2020;29(2): 117-120. doi:10.25753/BirthGrowthMJ.v29.i2.15184
10.25753/BirthGrowthMJ.v29.i2.15184
2183-9417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Centro Hospitalar Universitário do Porto
publisher.none.fl_str_mv Centro Hospitalar Universitário do Porto
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
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