Through PCR purification and Sanger sequencing of peripheral blood (using an alcohol precipitation method), 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1. A 20 year old female was genetically confirmed with a familial mutation at c.588_588dupA of the VHL gene. She presented with bilateral pheochromocytoma. Familial/syndromic (FS) association although further family history is unknown.