ESPE Abstracts

Introduction: NDM is a monogenic form of diabetes that occurs in the first 6 months of life. NDM is a rare condition accounting for up to 1 in 400,000 infants in the United States. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3. Of these, imprinting defects on chromosome 6q24 and the KCNJ11 mutation have been recognized as the maj...

Introduction: Reduced consciousness during diabetic ketoacidosis (DKA) is an acute medical emergency which necessitates rapid escalation of care. Rarely it can point towards unusual co-morbidities too. We report a case of new- onset type 1 diabetes (T1D) presenting with severe DKA in a teenager, complicated by an evolving neuropathy.Case report: A previously healthy 17-year-old girl presented in severe DKA following a 4-...

Introduction: Extreme hypertriglyceridaemia is uncommon in the paediatric population but can have devastating consequences. It can lead to acute pancreatitis, cutaneous eruptive xanthomas and lipaemia retinalis. Severe hypertriglyceridemia likely accounts for 1-10% of acute pancreatitis cases in adults but there is limited data in children. We report a case of new-onset type 1 diabetes mellitus (T1DM) presenting in diabetic ketoacidosis (DKA) with acute pancre...