Publication Date
1-1-2024
Journal
AACE Clinical Case Reports
DOI
10.1016/j.aace.2023.12.001
PMID
38523858
PMCID
PMC10958637
PubMedCentral® Posted Date
12-8-2023
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
pheochromocytoma, paraganglioma, tuberous sclerosis complex
Abstract
BACKGROUND/OBJECTIVE: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors. Here, we report an unusual case of synchronous PPGL in an asymptomatic patient with tuberous sclerosis complex (TSC).
CASE REPORT: A 49-year-old woman with a history of TSC and end-stage renal disease was referred for evaluation of bilateral adrenal and retroperitoneal masses. She denied chest pain, palpitations, headaches, or previous hypertensive crisis. The laboratory test results showed a plasma normetanephrine level of 20.20 nmol/L (normal range, 0.00-0.89 nmol/L) and plasma chromogranin A level Chromogranin A (CgA) levels of 1518 ng/mL (normal range, 0-103 ng/mL). The plasma metanephrine level was normal. After α-blockade, the patient underwent bilateral adrenalectomy and retroperitoneal mass excision. Pathology confirmed these lesions to be pheochromocytoma and composite paraganglioma/ganglioneuroma, respectively. Her plasma normetanephrine level normalized postoperatively, and the chromogranin A levels improved to 431 ng/mL.
DISCUSSION: Routine imaging has increased the incidental diagnosis of PPGL. Diagnostic workup includes measurement of the urinary and/or plasma metanephrine and catecholamine levels followed by tumor localization. Patients with young age, syndromic lesions, bilateral PPGL, or unilateral disease with a positive family history should have genetic testing. Definitive treatment is surgical after α-blockade.
CONCLUSION: This case highlights a rare presentation of bilateral PPGL in a patient with TSC.
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