ESPE Abstracts (2016) 86 P-P2-68

Family Character Isolated Pheochromocytoma by Mutation in Vhl gen

Concepción Freijo Martín, María Laura Bertholt Zuber, Luis De la Rubia Fernández & Cristina Naranjo González


Hospital Universitario Marques De Valdecilla, Santander, Cantabria, Spain


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, profuse sweating, intense headache and 190/120 blood pressure. Family history: father intervened at 40 years of unilateral pheochromocytoma, without other adjacent pathology. Initial biochemical data: glucose 82 mg/dl, cortisol 26.7 μg/dl (3.1–22.4), ACTH 15 pg7 ml (10–50), noradrenaline 1188 ug/T (15–80), Vanillylmandelic acid 57.6 mg/T (2–8). Renal ultrasound: identified a 5.5×4.4 cm mass with cystic areas, inside right adrenal gland, with mainly peripheral vascularization. Scintigraphy with I-123 MIBG: pathological uptake in the right adrenal gland, without affecting other levels. MRI of abdomen: right adrenal mass with defined margins and cystic areas inside, this mass mark at the bottom contour of the liver and upper pole of kidney without signs of infiltration. Normal left adrenal gland. Surgically intervened: surgically laparoscopy after performing block, first alpha, and then beta adrenergic. Complete tumor resection. Postoperative care: the child needed important volume contributions, vasoactive drugs and corticosteroids, which were withdrawing after 24 h. Currently asymptomatic with normal hormonal controls.

Conclusion: The genetic study in the child observing the mutation in the VHL, is identical to that of the father, which supports that this mutation is associated with unilateral familial pheochromocytoma.

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