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Case Reports
. 2017 Nov 16:5:2050313X17741016.
doi: 10.1177/2050313X17741016. eCollection 2017.

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

Joshua M Tate  1 , Janelle B Gyorffy  2 , Jeffrey A Colburn  1
Affiliations
Case Reports

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

Joshua M Tate et al. SAGE Open Med Case Rep. .

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.

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Conflict of interest statement

Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1.
Figure 1.
CT abdomen with contrast—heterogeneous, 6.4 cm × 4.9 cm × 4.8 cm right adrenal mass (red arrow).
Figure 2.
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.
See this image and copyright information in PMC

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