hrp0097p2-185 | Diabetes and Insulin | ESPE2023

DEND syndrome (Developmental delay, Epilepsy and Neonatal Diabetes) in two Pakistani Families, A Case Report

Abdul Razzaq Ayesha , Waris Rehmana , Faiz Abida , Waheed Nadia

Introduction: DEND syndrome is severe form of neonatal diabetes mellitus characterized by triad of developmental delay, epilepsy and neonatal diabetes. It is caused by mutations in the K-ATP channel encoded by KCNJ11 or SUR1 sulphonyl urea receptor 1 encoded by ABCC8 gene. Its Incidence is <1/1000,000 and until now very few cases have been reported worldwide. There is intermediate DEND syndrome (iDEND), this is less severe condition in which there is neonat...