Introduction:
The case of a familial paraganglioma syndrome is presented on the basis of the disease course of 5 affected family members and an overview of the diagnosis and therapy of paragangliomas and familial paraganglioma syndromes is given.
Methods:
Case description including genetic pedigree reconstruction and selective literature research.
Results:
Rare cases of hereditary paragangliomas are presented, in which three siblings between the ages of 23 and 32 years suffered almost simultaneously from 3 different glomus tumors of the head and neck area. Further human genetic investigations proved the genetic defect in subgroup D of the succinate dehydrogenase (SDH) gene in 5 further family members, of which 3 also showed a glomus tumor based on preventive imaging. The patients were treated surgically or radiotherapeutically.
In the literature search, a growth control of 70.0%-97.8% was found for glomus jugular- and glomus vagal tumors after radiotherapy with comparatively low morbidity, which makes this form of therapy attractive in addition to classical surgery. In glomus caroticum tumors with low morbidity (cerebrovascular complication 0%-4.4%; nerve injury 5.5%-32%) and mortality (0%-0.48%), surgery is still the therapy of choice.
Conclusion:
This study shows that the diagnosis of a paraganglioma must be based on the presence of other paragangliomas or on the presence of a hereditary paraganglioma. Early knowledge of the succinate dehydrogenase defect offers the clinician a high chance of early detection and curative local therapy through targeted preventive examinations.
