Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096ep38 | Fetal, Neonatal Endocrinology and Metabolism | IMPE2023

Early diagnosis of Kabuki syndrome in an infant with congenital hyperinsulinism

Thybo Christesen Henrik , Kjærsgaard Hansen Lars , Brusgaard Klaus

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...