Seizure as a Presentation of Permanent Neonatal Diabetes Mellitus due to Mutation in KCNJ11 Gene: A Case Report

Authors

  • Sibabratta Patnaik Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India
  • Bandya Sahoo Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India
  • Mukesh Kumar Jain Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India
  • Reshmi Mishra Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India
  • Jyotiranjan Behera Department of Paediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, India

Keywords:

glibenclamide; K ATP Channel; KCNJ 11 gene; Neonatal Diabetes Mellitus

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

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Published

2020-08-10

Issue

Vol. 40 No. 1 (2020)

Section

Case Reports