hrp0084p1-53 | Diabetes | ESPE2015

Perypheral Neuroblastic Tumours and Immunological Studies in ROHHADNET Syndrome (Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and NEural Tumour)

Napoli Flavia , Tallone Ramona , Calcagno Annalisa , Sorrentino Stefania , Allegri Anna , Iorgi Natascia Di , Maghnie Mohamad

Background: ROHHADNET syndrome affects children with normal development until 2–4 years. A paraneoplastic/autoimmune etiology has been suggested because of the association with neural crest tumours.Objective and hypotheses: Aim of this study was to describe the phenotype of ROHHADNET patients, and to evaluate a possible role of autoimmunity in this disorder. In spite of a suspicion for genetic etiology, disease-associated genetic variations have not...