Coarse face, hypotonia, and neurodevelopmental regression

Bibliographic Details
Main Author: Miranda, Ana Margalha
Publication Date: 2020
Other Authors: Ezequiel, Marta, Luís, Catarina, Dupont, Juliette, Gaspar, Paulo, Vilarinho, Laura, Janeiro, Patrícia, Gaspar, Ana
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: https://doi.org/10.25753/BirthGrowthMJ.v29.i2.15184
Summary: 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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-05-07T09:44:15Zoai:ojs.revistas.rcaap.pt:article/15184Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T14:39:39.664360Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
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
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
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.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:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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