Hereditary paraganglioma

Head and neck paraganglioma is a rare tumour, especially in its familial fo rm. We report a case of a multifocal head and neck paraganglioma in a young man with a family history of cervical tumours. At the age of 24, explorati on of a left cervical swelling disclosed jugulotympanic and carotid body pa ragangliomas. Surgical removal of both tumours was performed, Two years lat er, a right carotid body as well as vagal paragangliomas were discovered. F ollow-up at age 30 demonstrated relapse of the bilateral cervical paragangl iomas, but also aortopulmonary and mesogastric paragangliomas. Cervical par agangliomas were also detected in the patient's sister and daughter, but no t in his father. Furthermore, the proband's paternal grandmother and a mate rnal great-uncle had a history of 'neck scar'. This family history is sugge stive of an autosomal dominant pattern of inheritance with maternal genomic imprinting, Genetic analysis of paraganglioma kindreds showed linkage with two different loci: 11q13.1 and 11q22.3-q23. Further knowledge of the gene s involved could provide early diagnosis and accurate genetic counselling i n affected families. Thorough familial investigation is consequently mandat ory in all head and neck paragangliomas, especially in younger patients wit h multiple localizations, as surgical removal is safer at an early stage.