title: Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.
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.
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611-2605, USA.
authors.forename: Casey M
authors.initials: CM
authors.lastname: Rand
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611-2605, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, IL 60611, USA.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Carroll
authors.affiliation: Center for Autonomic Medicine in Pediatrics (CAMP), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611-2605, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, 303 East Chicago Avenue, Chicago, IL 60611, USA. Electronic address: DWeese-Mayer@LurieChildrens.org.
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
mesh_terms: D000465:Algorithms; D001341:Autonomic Nervous System / Q000503:physiopathology; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D009432:Neural Crest / Q000166:cytology; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D012140:Respiratory Tract Diseases; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
keywords: Autonomic; CCHS; Hirschsprung; Neuroblastoma; PHOX2B; Respiratory