PT  - JOURNAL ARTICLE
AU  - Armstrong, R
AU  - Sridhar, M
AU  - Greenhalgh, K L
AU  - Howell, L
AU  - Jones, C
AU  - Landes, C
AU  - McPartland, J L
AU  - Moores, C
AU  - Losty, P D
AU  - Didi, M
TI  - Phaeochromocytoma in children
AID  - 10.1136/adc.2008.139121
DP  - 2008 Oct 01
TA  - Archives of Disease in Childhood
PG  - 899--904
VI  - 93
IP  - 10
4099  - http://adc.bmj.com/content/93/10/899.short
4100  - http://adc.bmj.com/content/93/10/899.full
SO  - Arch Dis Child2008 Oct 01; 93
AB  - Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are “familial”, a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel–Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel–Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma.