hrp0089p2-p188 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Diazoxide Unresponsive Congenital Hyperinsulinism due to a Novel ABCC8 Missense Mutation

Ouarezki Yasmine , Ladjouze Asmahane , Djermane Adel , Houghton Jayne , Maouche Hachemi , Bouzerar Zohir , Tayebi Youcef

Background: Congenital hyperinsulinism is a frequent cause of persistent hypoglycaemia in neonates. Mutations of the KATP channel subunit are the most common molecular defects. We report here a novel ABCC8 gene mutation causing a severe form of CHI in a newborn.Case report: A 10-day-old boy born to consanguineous parents was referred for persistent hypoglycaemia. He was born by normal vaginal delivery at 38 weeks gestation, birth weight was 4....