Congenital hyperinsulinism in a neonate due to a novel homozygous mutation [ABCC8]: a case report

ABSTRACT

Congenital hyperinsulinism [CHI], a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycemia in infancy. It is characterized by the unregulated secretion of insulin from pancreatic beta-cells in relation to blood glucose concentration. The most common form of CHI is associated with autosomal recessive mutations in genes ABCC8 and KCNJ11, encoding the two subunits of the pancreatic beta-cells ATP sensitive potassium channel [KATP]. When the disease presents in the neonatal period, early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. Prenatal diagnosis of CHI with a know mutation is a promising new avenue which will ensure early and appropriate postnatal intervention and improved long term outcome. We report a case of neonatal CHI due to homozygous recessive mutation in the ABCC8 gene. The parents were asymptomatic carriers of ABCC8 gene. A review of literature and update on the genetics of the disease is presented in this article