Extradrenal paragangliomas can occur in individuals at any age although most arise in the fourth or fifth decade. Familial paragangliomas constitute approximately 10% of cases. These are part of a rare syndrome characterized by slow-growing tumors derived from paraganglia tissue. Recent years have brought significant progress in identifying the genetic etiology of this syndrome.
Thirty-eight years old female was referred to the endocrine department by ENT after finding a second paraganglioma on a follow up MRI for a previously resected right sided Glomus Jugulare tumour 25 years ago. Routine follow up MRI in 2005 showed a recurrent paraganglioma, which was treated with stereotactic radiotherapy. Following her treatment, a repeat MRI in 2008 showed a recurrent right sided neck paraganglioma. What was of interest was that patients brother was also under our care at the current time for investigation into a left sided paraganglioma.
Patient was investigated extensively including screening for catecholamine secretions and for other syndromes associated with paragangliomas. Patient had localizing scans including MIBG scan and MRI skull to pelvis. In view of family history and recurrent paraganglioma patient had genetic testing. Results showed raised normatedranline excretion on two occasions. Subsequently, patient developed symptoms of hyperadrenalism and was therefore a-blocked and b-blocked prior to surgical removal of tumour. MIBG scan prior to surgery confirmed the right sided lesion but also showed increased uptake in midline posterior to the bladder which was not seen on MRI.
Genetic testing confirmed a heterozygous mutation in the SDHB gene. The mutation was also identified in the patients brother who has a diagnosis of paraganglioma. Furthermore two of the patients children had the SDHB mutation. They are asymptomatic and are under surveillance for neuroendocrine tumours.
The case highlights the importance of family history, family genetic screening and surveillance in patients with recurrent paragangliomas.