hrp0089rfc14.3 | Multisystem Endocrine Disorders | ESPE2018

Dysregulated Glucose Homeostasis in Congenital Central Hypoventilation Syndrome

Musthaffa Yassmin , Goyal Vikash , Harris Margaret-Anne , Kapur Nitin , Leger Juliane , Harris Mark

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of respiratory control resulting from heterozygous polyalanine repeat expansions within the Paired-Like Homeobox 2B (PHOX2B) gene. A hypoglycaemic seizure in a 4-year-old girl with CCHS, lead to a more detailed examination of glycaemic control in a cohort of children with CCHS.Objective: To describe glucose homeostasis in children with CCHS.M...