Summary
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.
Keywords
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Article info
Publication history
Accepted:
April 20,
2004
Received:
March 31,
2004
Identification
Copyright
© 2005 Published by Elsevier Inc.
