Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

• Main Authors: Ettore Piro (Author), Ingrid Anne Mandy Schierz (Author), Vincenzo Antona (Author), Maria Pia Pappalardo (Author), Mario Giuffrè (Author), Gregorio Serra (Author), Giovanni Corsello (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital c...