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...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2017-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/2750523 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832556309642215424 |
|---|---|
| author | Cláudia Patraquim Vera Fernandes Sofia Martins Ana Antunes Olinda Marques José Luís Carvalho Jorge Correia-Pinto Carla Meireles Ana Margarida Ferreira |
| author_facet | Cláudia Patraquim Vera Fernandes Sofia Martins Ana Antunes Olinda Marques José Luís Carvalho Jorge Correia-Pinto Carla Meireles Ana Margarida Ferreira |
| author_sort | Cláudia Patraquim |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-098333ea93444cf1952973177deeed75 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-098333ea93444cf1952973177deeed752025-02-03T05:45:37ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/27505232750523A Pediatric Case of Cowden Syndrome with Graves’ DiseaseCláudia Patraquim0Vera Fernandes1Sofia Martins2Ana Antunes3Olinda Marques4José Luís Carvalho5Jorge Correia-Pinto6Carla Meireles7Ana Margarida Ferreira8Pediatrics Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalEndocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalPediatric Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalPediatric Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalEndocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalPediatric Surgical Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalLife and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, PortugalPediatrics Department, Hospital da Senhora da Oliveira, Creixomil, 4835-044 Guimarães, PortugalAnatomic Pathology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, PortugalCowden 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.http://dx.doi.org/10.1155/2017/2750523 |
| spellingShingle | Cláudia Patraquim Vera Fernandes Sofia Martins Ana Antunes Olinda Marques José Luís Carvalho Jorge Correia-Pinto Carla Meireles Ana Margarida Ferreira A Pediatric Case of Cowden Syndrome with Graves’ Disease Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2017/2750523 |
| work_keys_str_mv | AT claudiapatraquim apediatriccaseofcowdensyndromewithgravesdisease AT verafernandes apediatriccaseofcowdensyndromewithgravesdisease AT sofiamartins apediatriccaseofcowdensyndromewithgravesdisease AT anaantunes apediatriccaseofcowdensyndromewithgravesdisease AT olindamarques apediatriccaseofcowdensyndromewithgravesdisease AT joseluiscarvalho apediatriccaseofcowdensyndromewithgravesdisease AT jorgecorreiapinto apediatriccaseofcowdensyndromewithgravesdisease AT carlameireles apediatriccaseofcowdensyndromewithgravesdisease AT anamargaridaferreira apediatriccaseofcowdensyndromewithgravesdisease AT claudiapatraquim pediatriccaseofcowdensyndromewithgravesdisease AT verafernandes pediatriccaseofcowdensyndromewithgravesdisease AT sofiamartins pediatriccaseofcowdensyndromewithgravesdisease AT anaantunes pediatriccaseofcowdensyndromewithgravesdisease AT olindamarques pediatriccaseofcowdensyndromewithgravesdisease AT joseluiscarvalho pediatriccaseofcowdensyndromewithgravesdisease AT jorgecorreiapinto pediatriccaseofcowdensyndromewithgravesdisease AT carlameireles pediatriccaseofcowdensyndromewithgravesdisease AT anamargaridaferreira pediatriccaseofcowdensyndromewithgravesdisease |