ESPE Abstracts

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 neonatal diabetes and is accompanied by muscle weakness and developmental delayed but not epilepsy. Management includes oral sulphonylureas. We report two cases from two different Pakistani Families who have similar presentation and responded well to oral sulphonylureas.

Case Report: We have two patients admitted to our ward. First patient was five and a half months old male patient presented with fever cough and breathing difficulty. He was a globally delayed child with no neck holding achieved yet. He had generalized fits since two months of age. On examination he was microcephalic and marked hypotonia. Serum and urine ketones were positive. His BSRS was high, presented with DKA in ER. HbA1C was 8.5%. The patient was started on DKA protocol, anti-epileptics started. The patient got improved and discharged on long acting insulin (Insulin detemir). He again presented with severe DKA after 20 days of discharge. This time he was extremely sick with poor pulses and perfusion, His height, weight and OFC were less than third centile. Anti Insulin and Anti GAD antibodies were sent which came out to be negative. Genetics have been sent. He was started oral sulfonyl urea drugs. His BSRs improved and he was discharged afterwards. Second patient was three and months old female patient presented with focal fits, fever and breathing difficulty for the last 5 days. On examination she was microcephalic with weight and height less than third centile. She had not achieved neck holding yet. Her BSR was high and ABGs showed severe metabolic acidosis. HbA1c was 14.5%. Anti Insulin and anti-GAD antibodies were negative. Genetics have been sent. He was also started oral Sulphonyl urea drugs.

Discussion: Any patient presented with diabetes at an early age should be considered for Monogenic Diabetes Mellitus. Genetics should be sent as soon as possible. Oral sulphonyl urea should be started if there is triad of Developmentally delayed, Epilepsy and Neonatal Diabetes Mellitus