Contemporary strategies in the diagnosis and management of neonatal hyperinsulinaemic hypoglycaemia

Congenital hyperinsulinism (CHI) is a genetically and phenotypically diverse syndrome. Key management issues involve early diagnosis by ensuring that appropriate samples are taken at the point of hypoglycaemia, prevention of recurrent hypoglycaemia, and detailed charcterisation of the clinical, biochemical, and genetic features of each case. Infants with persistent diazoxide resistant CHI require evaluation at specialist referral centres equipped to differentiate those with focal (fo-HI) and diffuse (di-HI) pancreatic disease. Fo-HI is treated with selective pancreatic resection but di-HI is treated by surgery only if intensive medical management regimes are not efficacious.