A 2-day-old term neonate develops jitteriness and seizures. Blood glucose is 28 mg/dL. Serum insulin is 18 μIU/mL and C-peptide is elevated. A glucose infusion rate of 14 mg/kg/min is required to maintain blood glucose above 70 mg/dL. What is the most likely diagnosis?

• A Transient neonatal hypoglycemia of infancy
• B Congenital hyperinsulinism ✓
• C Beckwith-Wiedemann syndrome
• D Glycogen storage disease type I

Explanation

Congenital hyperinsulinism is characterized by inappropriate insulin secretion during hypoglycemia, requiring glucose infusion rates above 8 mg/kg/min (often 12-20 mg/kg/min) to maintain euglycemia. Elevated insulin and C-peptide during hypoglycemia confirm endogenous hyperinsulinism. GSD type I causes hypoglycemia with lactic acidosis and low insulin.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.