Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , |
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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Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical caseCongenital myotonic dystrophyDMPK geneHypotoniaSteinerts 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 Steinerts 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 Steinerts disease |
topic |
Congenital myotonic dystrophy DMPK gene Hypotonia Steinerts 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 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542018000400006 |
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 |
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 instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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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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1799137287769948160 |