Congenital Hyperinsulinism in Neonates: Diagnostic Challenges and Management in Two Cases With KCNJ11 and ABCC8 Mutation

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Abstract
We report two cases of persistent neonatal hypoglycemia associated with mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunits of the adenosine triphosphate-sensitive potassium channel. In both cases, symptoms were non-specific and initially attributed to other conditions, including suspected infection. Standard treatment with enteral and parenteral glucose infusions failed to restore euglycemia. Diazoxide was administered without a clinical response. Both patients were then treated with octreotide, resulting in stabilization of glycemic levels. Genetic testing confirmed the presence of pathogenic variants consistent with congenital hyperinsulinism. Early identification and targeted management were crucial to achieving metabolic control.

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