Pheochromocytoma Associated With Neurofibromatosis Type 1: A Case Report

We report a complex case of pheochromocytoma in a 50-year-old woman with a longstanding diagnosis of neurofibromatosis type 1 (NF-1), characterized by multiple cutaneous neurofibromas and axillary freckling. NF-1 is an autosomal dominant disorder that infrequently presents with pheochromocytoma, a potentially life-threatening endocrine tumor. The patient's clinical presentation included recurrent abdominal pain, unintentional weight loss, and poorly controlled hypertension despite longstanding antihypertensive treatment and management of type 2 diabetes mellitus. What makes this case unique is the size of the tumor (10 cm), the initial misinterpretation as a renal mass, and the delay in diagnosis despite classical symptoms. Diagnostic workup revealed a palpable right renal mass, with ultrasound and computed tomography confirming a large adrenal mass. Elevated urinary metanephrines established the diagnosis of pheochromocytoma. This case underscores the necessity for clinicians to maintain a high index of suspicion for pheochromocytoma in patients with NF-1 and hypertensive symptoms to enable timely intervention and prevent severe complications.