ABSTRACT
There is no doubt that in the context of disorders of respiratory control, congenital central hypoventilation syndrome (CCHS) occupies a unique place in human physiology. This entity, which can be viewed as a true experiment of nature, has allowed for major discoveries about the roles played by chemosensitivity in the maintenance of gas homeostasis as a function of state. However, as always occurs in biology, things turn out to be more complicated than anticipated. As such, the conceptual frameworks that have been proposed to account for the manifestations of CCHS have evolved over recent years to incorporate novel findings derived from physiology, genetics, and medicine. This chapter will review such findings and delineate the evolution of the concept that CCHS, rather than represent a pure phenotype of absent central chemosensitivity, is rather an intrinsic disorder of the autonomic nervous system.
