Abstract :
Neurofibromatosis (NF) is an inherited autosomal disorder that affects the nervous system and skin. Tumors, both benign and malignant, are reported to occur four times more often in patients with NF when compared to the general population matched for age and gender.1 A variety of endocrine tumors are frequently re-ported in these patients. The commonest one is pheochromocytoma,which occurs in 0.1% to 5.7% of patients.2 We report a case of hy-perparathyroidism and bilateral pheochromocytoma occurring in a patient with familial peripheral neurofibromatosis. The combination of pheochromocytoma and hyperparathyroidism suggest MEN2A (multiple endocrine neoplasia, type II) syndrome in this patient. On the other hand pheochromocytoma is part of the spectrum of disorders associated with neurofibromatosis type 1 (NF1). There are 14 reported cases of hyperparathyroidism occurring in patients with NF, making a genuine association between these two uncommon conditions likely.These differentials are discussed and diagnosis is confirmed based on genetic analysis.
