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Paediatric bilateral adrenal phaeochromocytomas in association with a novel mutation in the von Hippel Lindau gene
Author(s) -
Kim Leo,
Holland Andrew JA,
Srinivasan Shubha,
Cowell Chris T,
Benn Dindy E,
Robinson Bruce G
Publication year - 2008
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.2008.01360.x
Subject(s) - medicine , paraganglioma , pheochromocytoma , germline mutation , mutation , germline , von hippel–lindau disease , gene , gene mutation , pathology , genetics , disease , biology
Functional phaeochromocytoma and paraganglioma are rare in children and adolescents. We report a 12‐year‐old male with bilateral phaeochromocytoma in whom germ line testing identified a novel mutation in the von Hippel Lindau gene. Early age of onset, bilateral phaeochromocytoma and other clinical features should prompt germ line DNA testing for mutations in genes associated with familial phaeochromocytoma and paraganglioma syndromes.