Familial persistent hyperinsulinemic hypoglycemia with ABCC8 (SUR1) gen mutation with symptomatic epilepsy and mental retardation

Abstract

Hyperinsulinemic hypoglycaemia (HH) occurs as a result of unregulated insulin secretion from pancreatic beta cells. In newborns it is the most common cause of severe and prolonged hypoglycaemia. HH is a major risk factor for brain damage and subsequent neurological disability, so identification, rapid diagnosis and timely treatment of patients with HH is essential to prevent brain damage. The present case gives a brief description of a patient with HH with an established mutation in the ABCC8 gene encoding the sulphonylurea receptor 1 subunit (SUR1) of potassium- adenosine triphosphate channel (K-ATP). The genealogy, the clinical picture, the diagnostic cascade, the neurological consequences and their development in dynamics, with particular emphasis on epileptic syndrome and mental status, are examined.
Progress in molecular genetics, radiological imaging techniques, conservative treatment or laparoscopic surgery can completely change the clinical approach in children with severe congenital forms of HH.