A novel mutation in the <i>SDHD</i> gene in a family with inherited paragangliomas—implications of genetic diagnosis for follow up and treatment

Abstract

To allow early treatment with low morbidity, genetic counseling is needed when familial paraganglioma is suspected. Asymptomatic carriers should be followed by cervical MRI. In addition, because pheochromocytomas may occur, catecholamine excretion can be performed. This screening should probably be proposed at 5 to 10 years of age.