Abstract
We report a case of pheochromocytoma associated with familial von Recklinghausen's disease (VRD). A 52-year-old Japanese woman undergoing emergency surgery for cerebral hemorrhaging at another hospital was found during a check-up after surgery to have hypertension and a large left adrenal tumor. She was referred to us for further examination. She had a familial history of VRD with marked neurofibromatosis and café-au-lait spots on the skin. The tumor was diagnosed as pheochromocytoma by functional examination. Left adrenalectomy relieved her hypertension.
VRD is an autosomal dominant hereditary syndrome featuring neurofibromatosis. Pheochromocytoma shows various clinical symptoms caused by catecholamine oversecretion often associated with intracranial vascular disease. Although these 2 diseases are relatively closely associated, no clear relationship was demonstrated until now. We briefly review and analyze the genetic background of these diseases.
