Patient with bilateral, adrenal pheochromocytoma and neurofibromatosis type 1 - case report

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders in man, affecting 1 in 3000 people. Café au lait spots, axillary freckling, dermal neurofibromas and Lisch nodules of the iris are the most frequent manifestations of the disease. Affected persons are also at risk of developing benign and malignant tumors. The association between NF1 and pheochromocytoma is present in 1-10% of cases. Clinical features of pheochromocytoma in neurofibromatosis 1 patients are similar to those in patients with sporadic pheochromocytomas, unlike pheochromocytomas associated with other hereditary syndromes. Here we report a case of pheochromocytoma associated with NF1. 48-year-old man with NF1 was admitted to our hospital because of uncontrolled hypertension. On physical examination, cafe-au-lait spots and neurofibromas were observed. Lisch nodules were visible in split lamp. 24-hour urine catecholamine excretion was elevated. Computed tomography revealed two small tumors in both adrenal glands which was confirmed by ¹³¹I-MIBG scintigraphy. After diagnosis of pheochromocytoma had been established, medical management was initiated using phenoxybenzamine with concomitant using of metoprolol and was continued for two weeks preoperatively. Bilateral laparoscopic adrenalectomy was performed. Histopathological examination confirmed diagnosis of pheochromocytoma. The authors discuss the pathogenetic aspects of this rare pathological association and clinical manifestation of NF1.