Abstract
Diabetes Mellitus in first six months of life is usually monogenic and is referred to as neonatal diabetes mellitus. The incidence of neonatal diabetes is extremely rare and varies from 1:89000 to 1:400000 live births. We report a two months old baby presenting with repeated seizures; on evaluation found to have diabetic ketoacidosis and initially managed with IV insulin infusion. Genetic study revealed heterozygous mutation, p. Valin 252 Leu in KCNJ 11 gene. This mutation suggests responsiveness to oral glibenclamide. The baby has responded to therapy. Seizure as a presenting feature for hyperglycemia is a rare entity
Highlights
Diabetes Mellitus in first six months of life is usually monogenic and is referred to as neonatal diabetes
Neonatal diabetes can be divided into two clinical subtypes: permanent neonatal diabetes mellitus (PNDM) that requires continuous treatment since diagnosis and transient neonatal diabetes mellitus (TNDM) that typically resolves after a few weeks to months
Oral sulfonylurea for the treatment of neonatal diabetes is supported by researchers and clinicians; still insulin treatment is acutely required in most infants with newly diagnosed diabetes mellitus to treat ketoacidosis.[1]
Summary
Diabetes Mellitus in first six months of life is usually monogenic and is referred to as neonatal diabetes. Oral sulfonylurea for the treatment of neonatal diabetes is supported by researchers and clinicians; still insulin treatment is acutely required in most infants with newly diagnosed diabetes mellitus to treat ketoacidosis.[1] We report a case of NDM who presented with repeated seizures and found to have diabetic ketoacidosis. Random blood glucose (RBS) estimation showed ‘high’ reading with laboratory value of 684 mg/dl Her complete blood count, renal function tests and electrolytes were all within normal limits. She was diagnosed as a case of neonatal diabetes mellitus (NDM) and managed with soluble insulin infusion. Her glucose level came under control slowly and seizures were well controlled with phenytoin and levetiracetam. The baby is on our regular follow up and doing well
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