CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS)

About:

• What is the disease?
  • Congenital Central Hypoventilation Syndrome (CCHS) is a disorder of the nervous system in which the cue to breathe is lost when the patient goes to sleep. This results in a lack of oxygen and a build-up of carbon dioxide in the body, which can sometimes turn fatal.
    
    
  • Those suffering from CCHS, can lose their life if they fall into deep sleep.
    
    
  
  
  
• Names: CCHS disease is also known as Ondine’s Curse. Ondine, a nymph in French mythology, had cursed her unfaithful husband that he would forget to breathe the moment he fell asleep.
  
  
• Vulnerable groups: Though the name describes the disorder as congenital, some forms of the disease may also be present in adults.
  
  
• Cause:
  • The mutation of a gene called PHOX2B, which is crucial for the maturation of nerve cells in the body, can cause CCHS.
    
    
  • It can also be genetically acquired, which is when it is congenital. However, mutation is more common than a transmission of the mutated gene from parent to child.
    
    
  
  
  
• Symptom:
  • A typical presentation of the lack of breathing is when the lips start turning blue.
    
    
  • CCHS patients also have problems in regulation of heart rate and blood pressure, sweat profusely, often have constipation and cannot always feel pain.
    
    
  
  
  
• Treatment: Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. In Yatharth’s case, the surgery that has been prescribed proposes to put a diaphragm pacemaker.