Abstract

Introduction: Diabetes mellitus (DM) is a common, metabolic disease characterised by hyperglycaemia as a cardinal biochemical feature. Diabetes mellitus most commonly occurs after the neonatal period and results from complex interactions between both environmental and incompletely penetrant genetic factors. Advances in molecular genetics over the past decade hastened the realization that diabetes that occurs very early life is most often due to underlying monogenic defects — disorders caused by mutation(s) in a single gene. Neonatal (or congenital) diabetes mellitus (NDM) is now known to occur in approximately 1 in 90,000-160,000 live births. There are over 20 known genetic causes for neonatal diabetes mellitus (NDM).

Case Report: We report a 45 days Mch presented to ER with history of increased feeding, increased urination for last 25 days, fever for 3 days, fast breathing & decreased feeding for last 1 day. Patient is 3rd order child born out of non-consanguineous marriage with uneventful perinatal history. Both Elder siblings doing well. Father died few months back in a road traffic accident, was suffering from type 2 DM & was on OHA. Patient presented to ER with features of diabetic ketoacidosis (DKA). Management for DKA started as per the institution protocol. After complete workup the child was found to have permanent neonatal diabetes (NDM) & discharged with subcutaneous Insulin. Prognosis & course of the disease explained with advise for regular follow up.

Conclusion: Neonatal diabetes mellitus (also termed congenital diabetes, or diabetes of infancy) is likely to be due to an underlying monogenic defect. Usually it occurs under 6 months of age. Early recognition and urgent genetic testing are important for predicting the clinical course. Additionally early treatment of sulfonylurea-responsive types of neonatal diabetes may lead to better neurological outcomes. It is important to distinguish neonatal diabetes mellitus (NDM) from other causes of hyperglycaemia in the newborn. Other causes include infection, stress, inadequate pancreatic insulin production in the preterm infant. Insulin-dependent hyperglycaemia that persists longer than a week should raise suspicion for neonatal diabetes mellitus (NDM) and thus pointing towards genetic testing.

Keywords: Metabolic, genetic, mutations, neonatal diabetes, perinatal,  sulfonylurea.