Persistent Hypoglycemia and Macrosomia in a Newborn

A newborn girl with macrosomia and persistent hypoglycemia was diagnosed with congenital hyperinsulinism (CHI) due to a homozygous mutation in the ABCC8 gene. Her condition was severe and unresponsive to standard medical treatments, including high glucose infusion rates and diazoxide therapy. Genetic testing ruled out Beckwith-Wiedemann syndrome. Ultimately, a near-total pancreatectomy was necessary after other medical interventions, such as glucagon and octreotide, failed to stabilize her blood glucose levels. Post-surgery, she required continuous dextrose infusion and high-calorie feedings to maintain glucose levels. This case underscores the difficulties in managing CHI when genetic mutations make conventional treatments ineffective.