Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A case report / Journal of the ASEAN Federation of Endocrine Societies
Journal of the ASEAN Federation of Endocrine Societies
;
: 125-128, 2020.
Article
Dans Anglais
| WPRIM
| ID: wpr-961917
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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Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Glibenclamide
langue:
Anglais
Texte intégral:
Journal of the ASEAN Federation of Endocrine Societies
Année:
2020
Type:
Article
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