Progress of diagnosis and treatment of congenital central hypoventilation syndrome

Abstract

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by ventilatory insensitivity to hypercapnia and hypoxemia during sleep and/or wakefulness presenting in infancy, childhood or adulthood.Paired-like homeobox 2B (PHOX2B) is the disease-defining gene for CCHS, which includes 2 mutation types, polyalanine repeat expansion mutation(PARM) and non- PARM.The CCHS-phenotype is associated with PHOX2B genotype.Children with CCHS typically have normal breathing when awake, while have progressive shallow breathing, cyanosis, hypercapnia and hypoxemia when asleep, but they don′t response with respiratory effort.CCHS patients mainly present at birth, some may present in adult years.CCHS is also associated with generalized dysfunction of the autonomic nervous system, and Hirschsprung disease and tumors of neural crest origin are associated with the disease.Non-invasive ventilation is an effective treatment and it can increase the quality of life for CCHS patient. Key words: Congenital central hypoventilation syndrome; Infant; Paired-like homeobox 2B