hrp0097rfc10.4 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Clinical phenotypes of a multicentric cohort of ROHHAD patients

Napoli Flavia , Cerbone Manuela , Guftar Shaik M , Buonocore Federica , Angelelli Alessia , Fava Daniela , Tuli Gerdi , Pistorio Angela , T Dattani Mehul , Maghnie Mohamad

Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...