SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.

Wolfram Syndrome (WFS) is a rare, multisystemic, degenerative disease leading to premature death. Clinical and genetic heterogeneity makes WFS diagnosis and management challenging. The Italian Society of Diabetes (SID) and the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP) convened an expert panel of professional healthcare practitioners to provide up-to-date knowledge about the pathophysiology, clinical presentation and treatment of WFS, and recommendations for the earlydetection and optimal disease management.

Clinical Correlates of Osmophobia in Primary Headaches: An Observational Study in Child Cohorts.

Primary headaches, especially migraines, have a significant impact on physical and mental health, as well as on the scholarly performance and quality of life of children and adolescents. Osmophobia could be a potential diagnostic marker of migraine diagnosis and disability. This multicenter observational cross-sectional study included 645 children, aged 8-15, with a diagnosis of primary headaches.

Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.

We describe early-onset diabetes in a 6-month-old patient carrying an LRBA gene mutation. Mutations in this gene cause primary immunodeficiency with autoimmune disorders in infancy. At admission, he was in diabetic ketoacidosis, and treatment with fluid infusion rehydration and then i.