RESUMEN
A typical three generation-family with MEN 2A (Multiple Endocrine Neoplasia, Type 2A) is described. Two brothers and their uncle were affected with medullary thyroid carcinoma (MTC) and pheochromocytoma. The diagnosis of MTC was based on calcitonin determinations after pentagastrin stimulation. Pheochromocytoma was clinically silent in two cases. A family screening with pentagastrin test led to the diagnosis of C cell hyperplasia in a 8-year boy, who was then successfully operated on. The authors discuss the value of pentagastrin test and genetic testing in the early diagnosis of MTC associated with MEN 2A syndrome.
Asunto(s)
Carcinoma/diagnóstico , Carcinoma/genética , Neoplasia Endocrina Múltiple Tipo 2a/diagnóstico , Neoplasia Endocrina Múltiple Tipo 2a/genética , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/genética , Adulto , Calcitonina/sangre , Niño , Fármacos Gastrointestinales , Humanos , Masculino , Pentagastrina , SíndromeRESUMEN
A case of 55 years old woman with "hot" right lobe toxic thyroid nodule, presenting with paroxysmal atrial fibrillation, and therefore treated with 131I 666MBq (18 mCi) is described. After six years she became pyrexic and suffered of severe cough proxyisms. The fine needle biopsy of the above nodule showed the presence of anaplastic thyroid carcinoma. Strumectomy followed by local radiotherapy resulted in complete disappearence of all symptoms. The microscopic of the removed thyroid tissue confirmed the above diagnosis. After 22 months' observation the patient remained in good general condition. The possible reasons for the development of the thyroid carcinoma in this case are discussed.