GP46 Congenital hyperinsulinism: importance of early diagnosis by genetics & F-DOPA scanning for optimal management: 2 separate case reports

Background Congenital hyperinsulinism (CHI) is a rare inherited disease (1 in 50,000 newborns), that can be diffuse or focal. Mutations in ABCC8 gene are the most common cause. Advances in molecular genetics, imaging techniques (18FDOPA-PET-CT) and surgery have radically improved the outcome Objective To report two cases of infants with CHI and highlight how early genetic results aided medical and surgical management Case 1 A 5.68 kg, baby boy born at term via normal delivery had hypoglycaemia (blood glucose (BG) 0.8 mmol/L) at 2 hours of life. He required a glucose load of 20.2 mg/kg/min, 25% dextrose and fluid volume 200ml/kg/day. At BG Case 2 A 4 kg, term, male baby, forceps delivery was admitted to NICU on day 1, with hypoglycaemia (blood glucose (BG) of 1.4 mmol/L). Despite increasing glucose load of > 18 mg/kg/min, Dextrose 20% and fluid volume 180ml/kg/day, he continued to be hypoglycaemic. At BG of 0.9 mmol/L Insulin was 170 pmol/L ( Conclusion In both cases early detection of CHI with early genetic testing, F-DOPA scanning and collaboration with centres of excellence like NORCHI, all optimised the care & appropriate management.