Tiroidectomía total profiláctica en un niño de 5 años, asintomático, con neoplasia endocrina múltiple tipo 2A
- C. Sánchez-Villares Lorenzo
- M.A. Arias Consuegra
- C. Moreno
- Pablo Prieto Matos
ISSN: 0001-6640
Year of publication: 2015
Volume: 73
Issue: 7
Pages: 183-190
Type: Article
More publications in: Acta pediátrica española
Abstract
The multiple endocrine neoplasia type 2A is characterized by the presence of medullary thyroid cancer, pheochromocytoma and hyperparathyroidism. Is due to a germline mutation in the RET proto-oncogene located on chromosome 10. We report the case of an asymptomatic 5 year old, with family history of medullary thyroid cancer and mutation at codon 634 of the RET proto-oncogene. In his genetic study was confirmed the same mutation. He was asymptomatic, with levels of calcium, parathyroid hormone, calcitonin, catecholamines, thyroid function and thyroid ultrasound all of them normal. Prophylactic total thyroidectomy was made without complications during or after surgery and without other manifestations of the syndrome until now. All cases of mutation in the RET gene need prophylactic total thyroidectomy to prevent the development of medullary thyroid cancer. Monitoring of post-surgical complications, thyroid function and risk of hyperparathyroidism and pheochromocytoma is recommended.