Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report

Keywords: DEND syndrome, glibenclamide, congenital diabetes

Abstract

Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is the most severe form of Permanent Neonatal Diabetes with KCNJ11 gene mutation which accounts for most of the cases. We report the first DEND syndrome in Malaysia with heterozygous missense mutation Q52R at KCNJ11 (Kir6.2) gene with delayed presentation beyond 6 months of age and failure to transition to glibenclamide. This report signifies the phenotypical variability among patients with the same genetic mutation and the different response to treatment.

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Author Biographies

Muhd Alwi Muhd Helmi, Kulliyya of Medicine, International Islamic University of Malaysia

Pediatric Department

Suhaimi Hussain, University Sains Malaysia

Paediatric Department, School of Medical Sciences

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Published
2020-04-25
How to Cite
Muhd Helmi, M. A., & Hussain, S. (2020). Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report. Journal of the ASEAN Federation of Endocrine Societies, 35(1), 125-128. https://doi.org/10.15605/jafes.035.01.22
Section
Case Reports