Paragangliomas are rare tumours of the autonomic nervous system that occur in both sporadic and hereditary forms. They are usually benign tumours with low mortality, but can cause significant morbidity related to mass effect. Genetic predisposition to develop paraganglioma can occur within known tumour syndromes and familial tumours tend to present at a younger age and at multiple sites compared to sporadic tumours. Tumours should be diagnosed and excised as early as possible, as studies have shown morbidity to be directly related to tumour size. We present a case of a 14-year-old boy with multiple paraganglioma and a strong family history of paraganglioma. He suffered significant morbidity at resection of an extra-adrenal retroperitoneal tumour due to late diagnosis and was later unable to undergo excision of a head and neck paraganglioma due to its size and relation to neurovascular structures in the neck. We review the current literature on suggested genetic counselling (psychological counselling and DNA analysis) and radiological screening guidelines and recommend that genetic counselling should be offered to all patients with a family history of paraganglioma from the age of 5 years. Those positive for paternal paraganglioma locus gene should then undergo regular radiological screening with MRI.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Journal of Clinical Neuroscience
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Conservation surgery for glomus jugulare tumours: the value of early diagnosis.Laryngoscope. 1990; 100: 1031-1036
- Phaeochromocytoma – death of an axiom.New Engl J Med. 2002; 346: 1486-1488
- Germ-line mutations in nonsyndromic phaeochromocytoma.New Engl J Med. 2002; 346: 1459-1466
- Genetics of phaeochromocytoma and paraganglioma.Curr Opin Endo Diab. 2002; 9: 79-86
- Genetic analysis in the diagnosis of familial paragangliomas.Laryngoscope. 2000; 110: 1225-1229
- Hereditary paraganglioma targets diverse paraganglia.J Med Genet. 2002; 39: 617-622
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.Science. 2000; 287: 848-850
- Mutations in SDHC cause autosomal dominant paraganglioma, Type 3.Nat Genet. 2000; 26: 268-270
- Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial phaeochromocytoma and to familial paraganglioma.Am J Hum Genet. 2001; 69: 49-54
- A novel mutation in the SDHD gene in a family with inherited paragangliomas – implications of genetic diagnosis for follow up and treatment.Head Neck. 2003; 25: 145-151
- SDHD mutations in carotid body tumours and phaeochromocytomas: Paraganglioma syndrome Type 1.Curr Opin Endo Diab. 2003; 10: 197-204
- Carotid body tumour (chemodectoma): clinicopathologic analysis of ninety cases.Am J Surg. 1971; 122: 732-739
- Hereditary paraganglioma.J Int Med. 1999; 246: 113-116
- First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).J Med Genet. 1996; 33: 379-383
- Familial carotid body tumours: a closer look.J Vasc Surg. 1999; 29: 649-653
- Familial paragangliomas: the emerging impact of molecular genetics on evaluation and management.Am J Otol. 1999; 20: 639-643
- Paragangliomas of the head and neck: implications of molecular genetics in clinical medicine.Curr Opin Otolaryngol Head Neck Surg. 2000; 8: 384-390
Accepted: April 20, 2004
Received: March 31, 2004
© 2005 Published by Elsevier Inc.