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Abstract

January - March 2024 | Vol. 17 | Issue 1 | 02-04
An Intriguing Case of Neonatal Diabetes Mellitus
Dr Jyotsna Padmanabhan
1 Department of Pediatric Endocrinology & 2 Department of Pediatric Neurology, Manipal Hospital, Bengaluru, India
Address for Correspondence Email: jyotsnapadmanabhan@ymail.com
 
Abstract
Neonatal diabetes mellitus (NDM) is a rare cause of monogenic diabetes diagnosed usually before 6 months of age. We report a case of permanent NDM in a 4-month-old infant girl who presented with diabetic ketoacidosis. She had a past history of refractory epileptic spasms and developmental delay. Genetic analysis showed a heterozygous variant in the KCNJ11 gene. Around 25% of KCNJ11 mutations are also associated with neurological features. In this particular child, the clinical features of epileptic spasms, developmental delay and diabetes fit into DEND syndrome which represents one of the most severe forms of permanent NDM.
 
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