The importance of pheochromocytoma case detection in patients with neurofibromatosis type 1: A case report and review of literature

Abstract

Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%-5.7% versus 0.2%-0.6%, respectively. A delay in pheochromocytoma and paraganglioma diagnosis or undiagnosed pheochromocytoma and paraganglioma, as seen in normotensive and asymptomatic patients, may portend a significant morbidity and mortality risk due to excess catecholamine secretion. Currently, there are no generally accepted guidelines of screening for pheochromocytoma and paragangliomas in asymptomatic individuals of this population with approaches and practices varying considerably between physicians. Emerging data suggest benefit in routine pheochromocytoma and paraganglioma screening of all individuals with neurofibromatosis type 1. Herein, we present a case to highlight how routine case detection screening would have identified pheochromocytoma earlier in an active duty military member.

Keywords: Pheochromocytoma; catecholamine; metanephrine; neurofibromatosis type 1; screening.

Figure 1.

CT abdomen with contrast—heterogeneous, 6.4 cm × 4.9 cm × 4.8 cm right adrenal mass (red arrow).

Figure 2.

(a) Café au lait macules on trunk, neck, and face; (b) Lisch nodule within the iris (red arrow); and (c) gross surgical specimen—right adrenal pheochromocytoma.