SESSION TITLE: Student/Resident Case Report Poster - Critical Care I
SESSION TYPE: Student/Resident Case Report Poster
PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM
INTRODUCTION: Congenital central hypoventilation syndrome(CCHS) is a complex genetic disorder characterised by alveolar hypoventilation primarily due to autonomic dysregulation. Polyalanine Repeat Mutations(PARMs) of the PHOX2B gene(key transcriptional activator in developing the autonomic nervous system) account for disease phenotype. This condition has autosomal dominant inheritance. In this case report, we describe a case of CCHS whose robust management is demonstrated via a multidisciplinary approach.