Publication: Seizure as a Presentation of Permanent Neonatal Diabetes Mellitus due to Mutation in KCNJ11 Gene: A Case Report
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Date
2020
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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
Description
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