Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case

Detalhes bibliográficos
Autor(a) principal: Silva,Cláudia Teles
Data de Publicação: 2018
Outros Autores: Madureira,Cristina, Melo,Cláudia, Martins,Cecília, Cardoso,Raquel, Miguel,Cristina
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006
Resumo: Introduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report: A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100-1400 repeats), confirming diagnosis of congenital DM1. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.
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spelling Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical caseCongenital myotonic dystrophyDMPK geneHypotoniaSteinert’s diseaseIntroduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report: A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100-1400 repeats), confirming diagnosis of congenital DM1. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.Centro Hospitalar do Porto2018-12-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006Nascer e Crescer v.27 n.4 2018reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006Silva,Cláudia TelesMadureira,CristinaMelo,CláudiaMartins,CecíliaCardoso,RaquelMiguel,Cristinainfo:eu-repo/semantics/openAccess2024-02-06T17:06:21Zoai:scielo:S0872-07542018000400006Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:45.573242Repositório 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 Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
title Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
spellingShingle Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
Silva,Cláudia Teles
Congenital myotonic dystrophy
DMPK gene
Hypotonia
Steinert’s disease
title_short Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
title_full Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
title_fullStr Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
title_full_unstemmed Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
title_sort Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
author Silva,Cláudia Teles
author_facet Silva,Cláudia Teles
Madureira,Cristina
Melo,Cláudia
Martins,Cecília
Cardoso,Raquel
Miguel,Cristina
author_role author
author2 Madureira,Cristina
Melo,Cláudia
Martins,Cecília
Cardoso,Raquel
Miguel,Cristina
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv Silva,Cláudia Teles
Madureira,Cristina
Melo,Cláudia
Martins,Cecília
Cardoso,Raquel
Miguel,Cristina
dc.subject.por.fl_str_mv Congenital myotonic dystrophy
DMPK gene
Hypotonia
Steinert’s disease
topic Congenital myotonic dystrophy
DMPK gene
Hypotonia
Steinert’s disease
description Introduction: Congenital myotonic dystrophy type 1 (DM1) is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report: A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. A genetic study for myotonic dystrophy was requested, which revealed cytosine thiamine and guanine (CTG) expansion in the DMPK gene (1100-1400 repeats), confirming diagnosis of congenital DM1. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition. Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up.
publishDate 2018
dc.date.none.fl_str_mv 2018-12-01
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006
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dc.language.iso.fl_str_mv eng
language eng
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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.27 n.4 2018
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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