A case of neurofibromatosis type I with pheochromocytoma

Neurofibromatosis (NF) type I is an autosomal dominant disorder that is characterized by neurofibroma, café au lait spots, and axillary freckles of the skin. Patients with neurofibromatosis type I are at an increased risk of developing neural neoplasms including pheochromocytoma. Thus, in neurofibromatosis with hypertension, screening of pheochromocytoma is very important for the early detection of tumor and more favorable prognosis. We report a case of 45-year old male who presented with epigastric pain, elevated blood pressure and neurofibromatosis. Laboratory examination showed marked levels of plasma and urinary cathecholamine. The adrenal computerized tomograpy showed a left adrenal tumor suggesting a pheochromocytoma. To our knowledge, only two cases of pheochromocytoma associated with neurofibromatosis type I have been reported in Korea. We herein present an unusual case of neurofibromatosis with pheochromocytoma.