1100 Presentation, Clinical and Genetic Outcomes in a Series of Infants with Congenital Hyperinsulinism

Background & aims: Congenital hyperinsulinism (CHI) is a rare condition but a significant cause of recurrent hypoglycaemia in infancy and childhood. Prompt recognition and appropriate management is important to avoid long-term neurological sequelae. We aimed to describe the presentation, clinical and genetic outcomes in a series of infants with CHI.Methods: Retrospective case series of twenty-two patients diagnosed with CHI between 1992 and 2010 at The Children's University Hospital, Temple Street.Results: Fifteen of the twenty-two patients were male. Median age at presentation was day 2 (range: day 1- 18 months). Seizure was the most common presentation occurring in nine patients (40%). Mean glucose requirements to maintain euglycaemia were 14.6 mg/kg/min. First line treatment with diazoxide was commenced in all patients of whom twelve (54%) responded. Of those that did not respond to diazoxide, three were stabilized on octreotide and seven required surgery. One of these patients had a focal laparoscopic pancreatic resection, following pre-operative 18F-Fluorodopa positron emission tomography (18F-L -dopa PET). Genetic testing was performed on fifteen patients (68%). Five had a mutation(s) in the ABCC8 gene and two had mutations in the HNF4A gene. Twelve patients (54%) had a normal neurological outcome. Of the remaining ten, three patients had severe global developmental delay, three had moderate motor impairment and the remaining four patients had mild impairment.Conclusions: No clinical parameter significantly predicted outcome. Advances in both molecular genetics and 18F-L -dopa PET scanning will likely improve outcome for children diagnosed with CHI in the future.