IMPE Abstracts

Background: Kabuki syndrome (KS) is a rare malformation and disability syndrome, associated with congenital hyperinsulinism (CHI) in 0.3-4%. Whereas CHI may be the overt already from day one of life, the median age at KS diagnosis is 11-16 months.Methods: Case reportResults: A term-born girl, birth weight 4550 g had unexpected hypoglycemia 1.8 mmol/L (32 mg/dL) day one of life with...

Background: Congenital hyperinsulinism (CHI) is characterized by hyperinsulinemic hypoglycemia, conferring a high risk of neurodevelopmental impairment if not treated promptly and sufficiently. The conventional medications are often ineffective and while some forms of CHI are curable by surgery, new treatment modalities are advocated. Glucagon counteracts the action of insulin, but the use in CHI has been limited. We aimed to evaluate the efficacy and side eff...

Background: Congenital hyperinsulinism (CHI) is characterized by often severe hyperinsulinemic hypoglycemia due to pancreatic beta cell hypersecretion of insulin. Treatment delay confers a high risk of neurodevelopmental impairment (NDI).Methods: We performed a single-center retrospective review of medical records of CHI-patients with EEG recordings, with addition of a blinded, quantitative EEG-analysis with age-matched ...