Incidental Adrenal Mass in a Patient With a Known History of Neurofibromatosis: A Case Report

Neurofibromatosis type 1 (NF1), formerly known as von Recklinghausen disease, is the most common clinical phenotype of neurofibromatosis. Autosomal dominant variants in the NF1 gene, located on chromosome 17q11.2, lead to diverse clinical manifestations, including café-au-lait macules, cutaneous neurofibromas, Lisch nodules, optic gliomas, seizures, pheochromocytomas, and osseous lesions. We present a case report on a 63-year-old female with NF1 who presented with chronic radicular back pain that had recently changed in character and distribution. A computed tomography (CT) scan ordered for the evaluation of the patient's altered pain symptoms incidentally revealed a left adrenal mass measuring 4.1 x 3.1 cm. CT imaging was selected due to its superior spatial resolution, essential for assessing bony abnormalities associated with chronic spinal conditions. Although normotensive and without classic symptoms, such as tremors or headaches, the patient reported episodic heat intolerance with feelings of overheating. Given her medical history, physical exam findings, and imaging results, pheochromocytoma or sympathetic paraganglioma was strongly suspected. Endocrinology referral was advised; however, the patient did not complete this consultation at the time of this report. Consequently, the diagnosis of pheochromocytoma remains presumptive. This case underscores the critical role incidental imaging findings play in the early identification and management of pheochromocytomas and sympathetic paragangliomas, especially in NF1 patients. It emphasizes the necessity for heightened clinical vigilance and interdisciplinary follow-up in atypical presentations lacking classic symptomatology.