Signs and Symptoms - Respiratory arrests during sleep - Darkening of skin color due to inadequate oxygen - Drowsiness, fatigue, headaches, and insomnia - Sensitivity to sedatives and narcotics, making respiration more difficult

Causes - Congenital disorder, but can also result from severe brain or spinal trauma - Associated with neurodegenerative conditions like Parkinson's disease or multiple sclerosis - Some cases linked to chronic alcoholism - Involvement of the PHOX2B gene in the development of neurons - Formerly classified as a neurocristopathy, but now considered a disease of the neural tube

Diagnosis - Life-threatening episodes of apnea with cyanosis in infants - Impaired responses to hypercapnia and hypoxia - Polysomnography shows hypoventilation during slow-wave sleep - Some patients at high risk for developing neuroblastoma - Genetic mutations in the PHOX2B gene found in a French cohort

Treatment - Tracheostomy and lifetime mechanical ventilation required for survival - Biphasic cuirass ventilation as an alternative to tracheotomy - Oxygen therapy and respiratory stimulant medication may be used - Extended use of ventilators can lead to infections and pneumonia - Diaphragm pacing as an alternative to mechanical ventilation

Prognosis - Most people with CCHS do not survive infancy without ventilatory assistance - Late Onset CCHS has a different prognosis - Prognosis improved with early diagnosis and management - Prognosis varies depending on the severity and associated complications