A pediatric case of Cowden Syndrome with Graves' disease
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/1822/51288 |
Resumo: | Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options. |
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spelling |
A pediatric case of Cowden Syndrome with Graves' diseaseScience & TechnologyCowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options.info:eu-repo/semantics/publishedVersionHindawi LimitedUniversidade do MinhoPatraquim, CláudiaFernandes, Vera Adriana RibeiroMartins, SofiaAntunes, AnaMarques, OlindaCarvalho, José LuísCorreia-Pinto, JorgeMeireles, CarlaFerreira, Ana Margarida20172017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/1822/51288eng2090-68032090-681110.1155/2017/2750523https://www.hindawi.com/journals/cripe/2017/2750523/info: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:RCAAP2023-07-21T11:56:58Zoai:repositorium.sdum.uminho.pt:1822/51288Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:46:39.491563Repositório 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 |
A pediatric case of Cowden Syndrome with Graves' disease |
title |
A pediatric case of Cowden Syndrome with Graves' disease |
spellingShingle |
A pediatric case of Cowden Syndrome with Graves' disease Patraquim, Cláudia Science & Technology |
title_short |
A pediatric case of Cowden Syndrome with Graves' disease |
title_full |
A pediatric case of Cowden Syndrome with Graves' disease |
title_fullStr |
A pediatric case of Cowden Syndrome with Graves' disease |
title_full_unstemmed |
A pediatric case of Cowden Syndrome with Graves' disease |
title_sort |
A pediatric case of Cowden Syndrome with Graves' disease |
author |
Patraquim, Cláudia |
author_facet |
Patraquim, Cláudia Fernandes, Vera Adriana Ribeiro Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida |
author_role |
author |
author2 |
Fernandes, Vera Adriana Ribeiro Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida |
author2_role |
author author author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade do Minho |
dc.contributor.author.fl_str_mv |
Patraquim, Cláudia Fernandes, Vera Adriana Ribeiro Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida |
dc.subject.por.fl_str_mv |
Science & Technology |
topic |
Science & Technology |
description |
Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland. He started antithyroid drug (ATD) therapy with methimazole and, after a 2-year treatment period without achieving a remission status, a total thyroidectomy was performed. Diagnosis and management of CS should be multidisciplinary. Thyroid disease is frequent, but its management has yet to be fully defined. The authors present a case report of a pediatric patient with CS and GD and discuss treatment options. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017 2017-01-01T00:00:00Z |
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/1822/51288 |
url |
http://hdl.handle.net/1822/51288 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2090-6803 2090-6811 10.1155/2017/2750523 https://www.hindawi.com/journals/cripe/2017/2750523/ |
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 |
Hindawi Limited |
publisher.none.fl_str_mv |
Hindawi Limited |
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 |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132223163596800 |