TY - JOUR AU - Piro, Ettore AU - Schierz, Ingrid Anne Mandy AU - Antona, Vincenzo AU - Pappalardo, Maria Pia AU - Giuffrè, Mario AU - Serra, Gregorio AU - Corsello, Giovanni PY - 2020 DA - 2020/09/18 TI - Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation JO - Italian Journal of Pediatrics SP - 136 VL - 46 IS - 1 AB - 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 conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. SN - 1824-7288 UR - https://doi.org/10.1186/s13052-020-00902-8 DO - 10.1186/s13052-020-00902-8 ID - Piro2020 ER -