PS-R03-1: A CASE REPORT OF NEUROFIBROMATOSIS TYPE 1 (VON RECKLINGHAUSEN'S DISEASE) WITH HYPERTENSION, ASSOCIATED WITH PHEOCHROMOCYTOMA

Abstract

The patient is a 75-year-old man, who had multiple neurofibromas on the skin since the age 30 and was clinically diagnosed as neurofibromatosis type 1 (von Recklinghausen's disease) at the age 57, although there was no apparent family history. At the age 70, the patient had excerbated hypertension (home blood pressure 160/90 mmHg) and received amlodipine 5 mg/day. At the age 73, a 35 mm left adrenal tumor was incidentally noted on CT performed with an exacerbation of ulcerative colitis. He was diagnosed with left adrenal pheochromocytoma, due to high levels of urinary metanephrine and normetanephrine shown by urinalysis and an accumulation of 123I on the tumor site shown by 123I-MIBG scintigraphy. After adequate alpha blocking, left adrenal resection was performed. Pathology showed that PASS was 2 points, and MIB1 was 2–3%. Recently, two years after the operation, metanephrine and normetanephrine level has not been increased and keeps in normal range. Hypertension has been improved: Office blood pressure is about 130/70 mm Hg, and home blood pressure 120/70 mmHg, taking doxazosin 2 mg /day only, without amlodipine. Neurofibromatosis type 1 is an autosomal dominant genetic disorder caused by NF1 gene abnormality, characterized by cafe Ole spots and multiple neurofibromas. Pheochromocytomas have been clinically identified in 0.1 to 5.7% of patients with von Recklinghausen's disease (J Urol 1999; 162: 1582). When hypertension is observed in patients with neurofibromatosis type 1 (Recklinghausen's disease), it is important to screen for pheochromocytoma.