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Case Reports in Pediatrics
Volume 2017, Article ID 2750523, 4 pages
https://doi.org/10.1155/2017/2750523
Case Report

A Pediatric Case of Cowden Syndrome with Graves’ Disease

1Pediatrics Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal
2Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal
3Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal
4ICVS/3B’s-PT Government Associate Laboratory, Braga, Guimarães, Portugal
5Pediatric Endocrinology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal
6Pediatric Surgical Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal
7Pediatrics Department, Hospital da Senhora da Oliveira, Creixomil, 4835-044 Guimarães, Portugal
8Anatomic Pathology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal

Correspondence should be addressed to Cl√°udia Patraquim; moc.liamg@miuqartapaidualc

Received 21 September 2016; Revised 20 December 2016; Accepted 5 January 2017; Published 31 January 2017

Academic Editor: Yann-Jinn Lee

Copyright © 2017 Cláudia Patraquim et al. 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.

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.