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

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 wi...

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Autores principales: Helmi, Muhd Alwi Muhd, Hussain, Suhaimi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the ASEAN Federation of Endocrine Societies 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784171/
https://www.ncbi.nlm.nih.gov/pubmed/33442181
http://dx.doi.org/10.15605/jafes.035.01.22
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author Helmi, Muhd Alwi Muhd
Hussain, Suhaimi
author_facet Helmi, Muhd Alwi Muhd
Hussain, Suhaimi
author_sort Helmi, Muhd Alwi Muhd
collection PubMed
description 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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spelling pubmed-77841712021-01-12 Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report* Helmi, Muhd Alwi Muhd Hussain, Suhaimi J ASEAN Fed Endocr Soc Case Report 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. Journal of the ASEAN Federation of Endocrine Societies 2020-04-25 2020 /pmc/articles/PMC7784171/ /pubmed/33442181 http://dx.doi.org/10.15605/jafes.035.01.22 Text en © 2020 Journal of the ASEAN Federation of Endocrine Societies https://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International.
spellingShingle Case Report
Helmi, Muhd Alwi Muhd
Hussain, Suhaimi
Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report*
title Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report*
title_full Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report*
title_fullStr Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report*
title_full_unstemmed Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report*
title_short Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report*
title_sort severe developmental delay, epilepsy and neonatal diabetes (dend) syndrome: a case report*
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784171/
https://www.ncbi.nlm.nih.gov/pubmed/33442181
http://dx.doi.org/10.15605/jafes.035.01.22
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