CONGENITAL HYPERINSULINEMIC HYPOGLYEMIA – A RARE CASE REPORT

Congenital hyperinsulinism (CHI) has an estimated incidence of 1/50,000 live births and is the most common cause of severe and persistent hypoglycaemia (hyperinsulinemic hypoglycaemia, HH) in the neonatal, infancy and childhood periods. Early diagnosis and treatment positively inuence the prognosis, preventing permanent brain damage. Most commonly, CHI is the consequence of loss-of-function (LOF) mutations in the ABCC8 (SUR1) and KCNJ11 (Kir6.2) genes located on chromosome 11p15.1, which encode the adenosine triphosphate (ATP)-sensitive potassium channel (K ) of ATP pancreatic cells. Mutations of other genes involved in the regulation of insulin secretion are rarely identied: GCK, GLUD1, HADH, SLC16A1, HNF4A, HNF1A, UCP2, HK1 and 1 PGM1. Hyperinsulinemic hypoglycaemia (HH) is the leading cause of prolonged and per s i s tent hypoketoti c hypoglycaemia in neonates. Insulin secretion occurs excessively and uncontrollably, even in the presence of low plasma glucose concentrations in the affected neonates. Hypoglycaemia can present on a wide spectrum, from asymptomatic to life-threatening apnea or status epilepticus. Due to the crucial role of glucose as the primary source of energy for the neonatal brain and the absence of ketone bodies as an alternative energy source in HH, persistent and severe hypoglycaemia can result in irreversible cerebral damage and long-term neurological sequelae, including 2 developmental delay, cerebral palsy, and epilepsy in infants.