Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report

Muhd Helmi, Muhd Alwi and Hussain, Suhaimi (2020) Severe developmental delay, epilepsy and neonatal diabetes (DEND) syndrome: a case report. Journal of the ASEAN Federation of Endocrine Societies, 35 (1). pp. 125-128. ISSN 0857-1074 E-ISSN 2308-118x

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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.

Item Type:	Article (Case Report)
Additional Information:	7715/80977
Uncontrolled Keywords:	DEND syndrome, glibenclamide, congenital diabetes
Subjects:	R Medicine > RJ Pediatrics
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine > Department of Paediatrics
Depositing User:	Dr Muhd Alwi Muhd Helmi
Date Deposited:	27 Aug 2020 15:10
Last Modified:	27 Aug 2020 15:10
URI:	http://irep.iium.edu.my/id/eprint/80977

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