ESPE Abstracts

Introduction: ROHHAD syndrome (Rapid-onset Obesity with Hypoventilation, hypothalamic and autonomic dysregulation) is a rare and complex disease with potential fatal outcome. To this day there have been 158 cases reported in the literature while whole exome sequencing has not yet revealed any responsible genes. It usually presents at the age of 2-4 years and the diagnosis is based on the following criteria: 1) rapidly progressive obesity that develops at the a...