Congenital hyperinsulinism

Abstract

Transient hypoglycemia at birth is a common event that occurs due to immaturity of the mechanisms that regulate glucose homeostasis. In contrast, persistent hypoglycemia in infants is rare and in almost all cases is caused by congenital hyperinsulinism, an uncommon genetic disorder with an incidence of 1-1.4 cases per 50,000 live births in the general population, but as high as 1 in 2500 in consanguineous populations. There are 80-120 cases per year in the USA. Due to their scarcity, patients with HI should be referred to centers with expert multidisciplinary teams. Infants with HI demand complex and labor-intensive medical care and when surgical intervention is needed, it must be performed with careful planning, meticulous technique, and painstaking follow-up. Poorly managed disease results in prolonged hypoglycemia and the potential for severe and irreversible neurocognitive disabilities.