A 16-years-old male, with familiar precedents of familiar macrocephaly, he has been visited in external consultations of digestive in 2008 because he had rectal bleedings. A colonoscopy was made two times, in those situations some intestinal polyps have been extirpated. The result of the pathological antomy was polyps ganglioneuromas.
Due to the pathological compatible anatomy with ganglioneuromas, it stemmed to external consultations of endocrinology to reject the asociated syndrome of MEN 2B. The study was negative results but an ultrasound scan of thyroid showed diffuse affectations of both lodes and thyroid isthmus for multiple nodules.
With the existence of family macrocephaly as well as ganglioneuromas and thyroid nodules, genetic study was requested to reject Syndrome of Cowden. That study detected that the patient was a carrier of the mutation C-1033-C>T, p.R335X in the gene PTEN.
There was made a request to make a new ultrasound scan of thyroid to control, 6 months late which was informed as a diffuse affectation of both thyroid lodes by solid nodules > 2 cm. FNA was performed that was informed like a suggestive about malice by what whole realized thyroidectomy. The result of the definitive pathological anatomy was informed as a papillary thyroid carcinoma an oncocytic variety with two focal points of 2.5 and 0.5 cm.
Prague, Czech Republic
24 - 28 Apr 2010
European Society of Endocrinology