ESPE Abstracts

Introduction: Neurologic symptoms, such as cerebral edema, stroke, and extrapontine myelinolysis, are rare in pediatric patients with type 1 diabetes mellitus (T1DM) in the absence of severe diabetic ketoacidosis (DKA) or chronically poor glycemic control. Ischemic or hemorrhagic stroke may account for 10% of intracerebral complications of DKA. DKA increases the risk for neurovascular compromise by several proposed mechanisms, including dehydration, hyperosmolarity, tissue hyp...

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...