title: A Pediatric Case of Cowden Syndrome with Graves' Disease.
abstract: 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.
authors.affiliation: Pediatrics Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: Cláudia
authors.identifier: 0000-0003-0961-3244
authors.initials: C
authors.lastname: Patraquim
authors.affiliation: Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga, Guimarães, Portugal.
authors.forename: Vera
authors.initials: V
authors.lastname: Fernandes
authors.affiliation: Pediatric Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: Sofia
authors.initials: S
authors.lastname: Martins
authors.affiliation: Pediatric Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Antunes
authors.affiliation: Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: Olinda
authors.initials: O
authors.lastname: Marques
authors.affiliation: Pediatric Surgical Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: José Luís
authors.initials: JL
authors.lastname: Carvalho
authors.affiliation: Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal; ICVS/3B's-PT Government Associate Laboratory, Braga, Guimarães, Portugal; Pediatric Surgical Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: Jorge
authors.initials: J
authors.lastname: Correia-Pinto
authors.affiliation: Pediatrics Department, Hospital da Senhora da Oliveira, Creixomil, 4835-044 Guimarães, Portugal.
authors.forename: Carla
authors.initials: C
authors.lastname: Meireles
authors.affiliation: Anatomic Pathology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors.forename: Ana Margarida
authors.initials: AM
authors.lastname: Ferreira