Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation

Clin Chest Med. 2014 Sep;35(3):535-45. doi: 10.1016/j.ccm.2014.06.010. Epub 2014 Jul 26.

Abstract

Congenital central hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with alveolar hypoventilation during sleep, or in more severely affected individuals, during sleep and wakefulness. Breathing complications occur despite the lungs and airways being normal. Disordered respiratory control demonstrated by absent or severely attenuated ventilatory, behavioral, and arousal responses to both endogenous and exogenous hypoxemia and hypercarbia results in severe physiologic compromise.

Keywords: Autonomic; CCHS; Hirschsprung; Neuroblastoma; PHOX2B; Respiratory.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Algorithms
  • Autonomic Nervous System / physiopathology
  • Female
  • Genetic Association Studies
  • Genetic Testing
  • Homeodomain Proteins / genetics
  • Humans
  • Hypoventilation / congenital*
  • Hypoventilation / diagnosis
  • Hypoventilation / genetics
  • Hypoventilation / physiopathology
  • Mutation
  • Neural Crest / cytology
  • Pregnancy
  • Pregnancy Complications / genetics
  • Respiratory Tract Diseases
  • Sleep Apnea, Central / diagnosis
  • Sleep Apnea, Central / genetics
  • Sleep Apnea, Central / physiopathology*
  • Transcription Factors / genetics

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors

Supplementary concepts

  • Congenital central hypoventilation syndrome