TY - JOUR T1 - Phaeochromocytoma in children JF - Archives of Disease in Childhood JO - Arch Dis Child SP - 899 LP - 904 DO - 10.1136/adc.2008.139121 VL - 93 IS - 10 AU - R Armstrong AU - M Sridhar AU - K L Greenhalgh AU - L Howell AU - C Jones AU - C Landes AU - J L McPartland AU - C Moores AU - P D Losty AU - M Didi Y1 - 2008/10/01 UR - http://adc.bmj.com/content/93/10/899.abstract N2 - 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. ER -