Unmasking monogenic diabetes in a two-month-old infant presenting with respiratory distress: A case report

Neonatal diabetes mellitus (NDM) is a rare monogenic disorder presenting usually within the first 6 months of life, with an estimated incidence ranging from 1 in 90,000 to 1 in 400,000 live births. We report a case of a 2-month-old male infant initially presenting with respiratory symptoms, later diagnosed with diabetic ketoacidosis. He was initially managed with intravenous insulin and subsequently transitioned to oral sulfonylurea. Genetic analysis revealed a heterozygous p.Gln1019Arg mutation in the ABCC8 gene, known to confer sulfonylurea responsiveness. The child demonstrated excellent clinical response to glibenclamide.