Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

Table 1

Totals of CCHS-related symptoms. The symptoms emerge from different organ systems and could be overlooked by the clinicians.

Respiratory symptoms	Nocturnal hypoventilation and possible daytime hypoventilation; Ability to hold breath for a long period of time and absence of air hunger afterwards
Cardiovascular symptoms	Arrhythmias; Reduced heart rate variability; Vasovagal syncope; Syncope; Cold extremities; Postural hypotension
Neurologic symptoms	Developmental delay; Seizures (primarily during infancy); Motor and speech delay; Learning disabilities; Altered perception of pain
Gastrointestinal symptoms	Hirschsprung’s disease-related symptoms: dysphagia, constipation, and gastroesophageal reflux
Ophthalmologic symptoms	Nonreactive/sluggish pupils; Altered lacrimation and near response; Anisocoria, miosis, and ptosis; Strabismus
Temperature instability	Altered perspiring; Absence of fever with infections
Malignancies	Tumors of neural crest origin
Psychological	Decreased anxiety