Radiographic Skeletal Features of Mucopolysaccharidosis Type VI

Detalhes bibliográficos
Autor(a) principal: Bento,Filipa Lisboa
Data de Publicação: 2024
Outros Autores: Alves,Danilo, Vilela,Maria Leonor, Cruz,Fernanda, Donato,Paulo
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=S2183-13512024000100037
Resumo: Abstract We present a case of a patient in his twenties, diagnosed with mucopolysaccharidosis type VI at 7 years old, and since then under enzyme replacement therapy. He has a clinical history of short stature, hypogonadism, moderate mitral and aortic valve insufficiency, bilateral hip dysplasia, bilateral carpal tunnel syndrome and bilateral corneal clouding. A skeletal radiographic evaluation showed typical radiological features of this disease, generally referred to as dysostosis multiplex. Maroteaux-Lamy syndrome is a rare genetic disease, associated with several clinical manifestations, affecting virtually all organic systems. The most distinctive features of this syndrome are skeletal, with characteristic imaging findings on skeletal radiography, which we demonstrate in this article.
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spelling Radiographic Skeletal Features of Mucopolysaccharidosis Type VIRadiographyBoneMucopolysaccharidosisMaroteaux-Lamy syndrome.Abstract We present a case of a patient in his twenties, diagnosed with mucopolysaccharidosis type VI at 7 years old, and since then under enzyme replacement therapy. He has a clinical history of short stature, hypogonadism, moderate mitral and aortic valve insufficiency, bilateral hip dysplasia, bilateral carpal tunnel syndrome and bilateral corneal clouding. A skeletal radiographic evaluation showed typical radiological features of this disease, generally referred to as dysostosis multiplex. Maroteaux-Lamy syndrome is a rare genetic disease, associated with several clinical manifestations, affecting virtually all organic systems. The most distinctive features of this syndrome are skeletal, with characteristic imaging findings on skeletal radiography, which we demonstrate in this article.Sociedade Portuguesa de Radiologia e Medicina Nuclear2024-04-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512024000100037Acta Radiológica Portuguesa v.36 n.1 2024reponame: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=S2183-13512024000100037Bento,Filipa LisboaAlves,DaniloVilela,Maria LeonorCruz,FernandaDonato,Pauloinfo:eu-repo/semantics/openAccess2024-10-17T23:01:00Zoai:scielo:S2183-13512024000100037Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-10-17T23:01Repositório 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 Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
title Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
spellingShingle Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
Bento,Filipa Lisboa
Radiography
Bone
Mucopolysaccharidosis
Maroteaux-Lamy syndrome.
title_short Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
title_full Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
title_fullStr Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
title_full_unstemmed Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
title_sort Radiographic Skeletal Features of Mucopolysaccharidosis Type VI
author Bento,Filipa Lisboa
author_facet Bento,Filipa Lisboa
Alves,Danilo
Vilela,Maria Leonor
Cruz,Fernanda
Donato,Paulo
author_role author
author2 Alves,Danilo
Vilela,Maria Leonor
Cruz,Fernanda
Donato,Paulo
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Bento,Filipa Lisboa
Alves,Danilo
Vilela,Maria Leonor
Cruz,Fernanda
Donato,Paulo
dc.subject.por.fl_str_mv Radiography
Bone
Mucopolysaccharidosis
Maroteaux-Lamy syndrome.
topic Radiography
Bone
Mucopolysaccharidosis
Maroteaux-Lamy syndrome.
description Abstract We present a case of a patient in his twenties, diagnosed with mucopolysaccharidosis type VI at 7 years old, and since then under enzyme replacement therapy. He has a clinical history of short stature, hypogonadism, moderate mitral and aortic valve insufficiency, bilateral hip dysplasia, bilateral carpal tunnel syndrome and bilateral corneal clouding. A skeletal radiographic evaluation showed typical radiological features of this disease, generally referred to as dysostosis multiplex. Maroteaux-Lamy syndrome is a rare genetic disease, associated with several clinical manifestations, affecting virtually all organic systems. The most distinctive features of this syndrome are skeletal, with characteristic imaging findings on skeletal radiography, which we demonstrate in this article.
publishDate 2024
dc.date.none.fl_str_mv 2024-04-01
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=S2183-13512024000100037
url http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512024000100037
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv http://scielo.pt/scielo.php?script=sci_arttext&pid=S2183-13512024000100037
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Radiologia e Medicina Nuclear
publisher.none.fl_str_mv Sociedade Portuguesa de Radiologia e Medicina Nuclear
dc.source.none.fl_str_mv Acta Radiológica Portuguesa v.36 n.1 2024
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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