Pheochromocytoma and Neurofibromatosis Type 1 in a Patient with Hypertension

Abstract

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant condition that has a variety of clinical manifestations. Essential or secondary hypertension may be associated with neurofibromatosis. A rare finding is hypertension due to pheochromocytoma in patient with neurofibromatosis type 1.

CASE REPORT: We present a case with a 7-year medical history of hypertension which was poorly controlled and with wide variations of blood pressure before the examination. Investigations did not reveal a secondary cause of hypertension. After the physical examination and establishing the diagnosis of neurofibromatosis, as well as the history of symptomes suggestive of catecholamine discharge, diagnostic procedures for pheochromocytoma were undertaken. Abdominal CT and MRI have proven the presence of a right adrenal tumor mass which was suspected to be a pheochromocytoma. Patient was preoperatively treated for two weeks with alpha and beta blokers and right adrenalectomy was performed. Perioperatively and on a longer term, blood pressure remained well controlled with less antihypertensive therapy. Diagnosis and management of pheochromocytoma in neurofibromatosis involves a dermatologist, endocrinologist, nephrologist and an urologist and requires a well-coordinated multidisciplinary approach.

CONCLUSIONS: Pheochromocytoma, although a rare condition in patients with neurofibromatosis, may be a cause for uncontrolled hypertension, as well as other cardiovascular complications and the clinician should do all available clinical investigations to confirm it or exclude it on time.