ea0033p17 | (1) | BSPED2013
Gopal Jaya Sujatha
, Mohamed Zainaba
, Padidela Raja
, Patel Leena
, Skae Mars
, Didi Mohammed
, James Jackie
, Caine Louise
, Rigby Lindsey
, Cosgrove Karen E
, Dunne Mark
, Ellard Sian
, Banerjee Indi
, Clayton Peter
Introduction: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia, which can be either focal or diffuse in aetiology. Both forms are associated with paternally inherited mutations in ABCC8/KCNJ11. Lymphocytic DNA analysis alone is inadequate to diagnose focal CHI, as pancreatic maternal allelic silencing cannot be tested prior to surgery. Additional 18-fluorodopa PETCT scanning (PETCT) is required for definitive diagnosis; in this study, ...