Congenital hyperinsulinaemic hypoglycaemia- Genetically confirmed case series from a single centre

Congenital hyperinsulinaemic hypoglycaemia (CHI) associated with recurrent hypoglycaemia is a genetic disorder associated with inappropriate secretion of insulin from pancreatic beta cells [1,2]. Excess insulin production inhibit gluconeogenesis, glycogenolysis as well as ketone body production resulting in substrate deficiency to brain cells [3]. The incidence of CHI vary from 1 in 35,000‐40,000 in the general population to 1 in 2500 in countries where consanguinity is high [4]. CHI has heterogeneous clinical presentation, response to therapy and molecular basis. The patients usually present before the first year of life with seizures or symptoms of hypoglycaemia like drowsiness, sweating or pallor.