Aims: VHL disease is an autossomal dominant syndrome that affects one in every 36 000 live births. The diagnosis is based on clinical criteria and the detection of the mutation on VHL gene. Most cases are diagnosed during the 2nd decade of life; this syndrome includes pheochromocytomas with the following characteristics: extraadrenal location, bilaterality, multifocal lesions, age of onset <30 years and discrete manifestations of catecholamine overproduction.
The authors present the case of a pheochromocytoma diagnosed in a patient with Von-Hippel Lindau disease.
Methods: We present the case of a 42-year-old female patient with Von-Hippel Lindau disease manifested by retinal angiomas (bilateral amaurosis at age 17), and cerebellar hemangioblastomas (ataxia at age 28). The patient was admitted at our clinic after detection of two right adrenal nodules with 2 and 3 cm each, and a hipodense mass on the left kidney.
The patient complained of headaches and occasional palpitations; she had high blood pressure diagnosed 11 years ago controlled with two antihypertensive drugs. She denied previous hypertensive emergencies. There was no family history of high blood pressure or pheochromocytoma.
Our investigation revealed: Orthostatic hypotension;
5473 nmol/day of normetanephrine (laboratory range: 4802424 nmol/day) in 24 h urine sample;
Area of increased uptake in radionuclide scintiscan with I131-MIBG in the right adrenal.
Right adrenalectomy was performed revealing two nodules of 2, 5 and 3 cm. Histology revealed two capsulated pheochromocytoma with low mitotic index, no vascular invasion and positivity for chromogranin, synaptofisin, NSE and S-100.
Genetic study was requested but results are unavailable until now.
Conclusions: In this case we emphasize the age of diagnosis (later than usual), the presence of hypertension without paroxysms, the presence of orthostatic hypotension and the finding of multiple adrenal lesions.
25 - 29 Apr 2009
European Society of Endocrinology