A dominant ABCC8-related hyperinsulinism: Familial case reportmoreira et al. ABCC8-related hyperinsulinism

摘要

We have evaluated a pre-term male newborn, product of an uncomplicated gestation of a non-consanguineous couple, presenting with refractory, symptomatic hypoglycemia within the first days of life. He was classified as adequate for the gestational age (Gestation: 32 weeks; BW: 2505 g; BL: 46.5 cm; OFC: 34.5 cm). The first hypoglycemic episode was detected at 29 hours of life (serum glucose: 4 mg/dL), requiring high doses of glucose infusion (>10 mg/Kg.minute) and unsuccessful use of hyperglycemic medication (glucagon, prednisolone, diazoxide and octreotide). Insulin level has always remained high. Thereafter, the patient underwent two surgical interventions for pancreatic tissue removal at 53 and 74 days of life, once the hypoglycemia persisted.