Cargando…
A Pediatric Case of Cowden Syndrome with Graves' Disease
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...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306985/ https://www.ncbi.nlm.nih.gov/pubmed/28251007 http://dx.doi.org/10.1155/2017/2750523 |
_version_ | 1782507286985441280 |
---|---|
author | Patraquim, Cláudia Fernandes, Vera Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida |
author_facet | Patraquim, Cláudia Fernandes, Vera Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida |
author_sort | Patraquim, Cláudia |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-5306985 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-53069852017-03-01 A Pediatric Case of Cowden Syndrome with Graves' Disease Patraquim, Cláudia Fernandes, Vera Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida Case Rep Pediatr Case Report 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. Hindawi Publishing Corporation 2017 2017-01-31 /pmc/articles/PMC5306985/ /pubmed/28251007 http://dx.doi.org/10.1155/2017/2750523 Text en Copyright © 2017 Cláudia Patraquim et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Patraquim, Cláudia Fernandes, Vera Martins, Sofia Antunes, Ana Marques, Olinda Carvalho, José Luís Correia-Pinto, Jorge Meireles, Carla Ferreira, Ana Margarida A Pediatric Case of Cowden Syndrome with Graves' Disease |
title | 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_short | A Pediatric Case of Cowden Syndrome with Graves' Disease |
title_sort | pediatric case of cowden syndrome with graves' disease |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5306985/ https://www.ncbi.nlm.nih.gov/pubmed/28251007 http://dx.doi.org/10.1155/2017/2750523 |
work_keys_str_mv | AT patraquimclaudia apediatriccaseofcowdensyndromewithgravesdisease AT fernandesvera apediatriccaseofcowdensyndromewithgravesdisease AT martinssofia apediatriccaseofcowdensyndromewithgravesdisease AT antunesana apediatriccaseofcowdensyndromewithgravesdisease AT marquesolinda apediatriccaseofcowdensyndromewithgravesdisease AT carvalhojoseluis apediatriccaseofcowdensyndromewithgravesdisease AT correiapintojorge apediatriccaseofcowdensyndromewithgravesdisease AT meirelescarla apediatriccaseofcowdensyndromewithgravesdisease AT ferreiraanamargarida apediatriccaseofcowdensyndromewithgravesdisease AT patraquimclaudia pediatriccaseofcowdensyndromewithgravesdisease AT fernandesvera pediatriccaseofcowdensyndromewithgravesdisease AT martinssofia pediatriccaseofcowdensyndromewithgravesdisease AT antunesana pediatriccaseofcowdensyndromewithgravesdisease AT marquesolinda pediatriccaseofcowdensyndromewithgravesdisease AT carvalhojoseluis pediatriccaseofcowdensyndromewithgravesdisease AT correiapintojorge pediatriccaseofcowdensyndromewithgravesdisease AT meirelescarla pediatriccaseofcowdensyndromewithgravesdisease AT ferreiraanamargarida pediatriccaseofcowdensyndromewithgravesdisease |