Central hypoventilation syndrome


Central Hypoventilation Syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep.



Historically known as Ondine’s curse.



Known as Ondine’s curse, primary alveolar hypoventilation, alveolar hypoventilation secondary to neurologic disease, and idiopathic acquired central hypoventilation syndrome



It can cause similar problems during wakefulness in severe cases.



CHS can either be congenital or acquired later in life. 



If untreated it may be fatal.



Acquired CHS can develop as a result of injury or trauma to the brain or brainstem. 



Congenital cases are very rare.



Congenital CHS involves a failure of autonomic control of breathing. 



In all cases, episodes of apnea occur in sleep.



In a few patients, at the most severe end of the spectrum, apnea also occurs while awake.



CHS is associated with respiratory arrests during sleep and, in some cases, to neuroblastoma, Hirschsprung disease, dysphagia and anomalies of the pupil. 



Findings include darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches, an inability to sleep at night, sensitivity to sedatives and narcotics, which makes respiration even more difficult. 



A low concentration of oxygen in the red blood cells also may cause hypoxia-induced pulmonary vasoconstriction and pulmonary hypertension, culminating in cor pulmonale.



Associated complications of CHS may include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities, episodes of fainting, and temperature disregulation.



Typically it is a congenital disorder.



In rare circumstances, can also result from severe brain or spinal trauma : automobile accident, stroke, asphyxiation, brain tumor, encephalitis, poisoning, as a complication of neurosurgery, neurodegenerative conditions such as Parkinson’s disease, multiple system atrophy, or multiple sclerosis. 



PHOX2B, a transcription factor involved in the development of neurons, can be an associated process, as this  homeobox gene is important for the normal development of the autonomic nervous system.



The sequence of PHOX2B reveals mutations in 91% of the cases.



Diagnosis : 



Children with CCHS develop life-threatening episodes of apnea with cyanosis, usually in the first months of life. 



Polysomnography shows that hypoventilation is  marked during slow-wave sleep. 



Hypoventilation May be present during other nonrapid eye movement sleep stages and even wakefulness. 



A subset of CCHS patients are at very high risk for developing malignant neural crest-derived tumors, such as neuroblastoma.



Treatment generally requires tracheostomy with lifetime mechanical ventilation on a ventilator.



Biphasic cuirass ventilation can effectively be used, as can oxygen therapy and medicine for stimulating the respiratory system. 



Extended use of ventilators, including fatal infections and pneumonia.



Most people with CCHS do not survive infancy, unless they receive ventilatory assistance during sleep.




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