Congenital Central Hypoventilation Syndrome (CCHS)

Brief Description

Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s Syndrome, is a rare disease characterized by a nocturnal respiratory impairment. This is caused by the deficiency of the mechanisms in charge of the automatic control of breathing united to a dysfunction of the autonomic nervous system: children affected by CCHS show an adequate ventilation while awake but insufficient during sleep.


Causes

Ondine’s Syndrome is a genetic disease caused in 90% of the cases by an heterozygous mutation of the PHOX-2B.


Symptoms

The respiratory impairment while sleeping of Ondine’s syndrome is characterized by the phenomenon known as of “forgotten breathing”: affected patients manifest the inability to breathe while asleep and require ventilator assisted breathing to avoid fatal complications.


Cures and Therapy

Ondine’s syndrome is currently a chronic disease because known drugs are not able to stimulate the respiratory function. Mechanical ventilation is thus required for maintaining the respiratory function while sleeping – support is offered by positive pressure ventilators (nasal masks, tracheostomy), negative pressure ventilator and diaphragmatic pacemakers.