hrp0086p2-p68 | Adrenal P2 | ESPE2016

Family Character Isolated Pheochromocytoma by Mutation in Vhl gen

Freijo Martin Concepcion , Laura Bertholt Zuber Maria , De la Rubia Fernandez Luis , Naranjo Gonzalez Cristina

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...