Print Friendly, PDF & Email

Congenital Central Hypoventilation Syndrome (CCHS)

Topics Covered:

  1. Issues relating to development and management of Social Sector/Services relating to Health, Education, Human Resources.

 

Congenital Central Hypoventilation Syndrome (CCHS)

 

What to study?

For Prelims and Mains: Congenital Central Hypoventilation Syndrome (CCHS)- causes, symptoms and treatment.

 

Context: An infant in Delhi is suffering from a rare disease.

 

What is Congenital Central Hypoventilation Syndrome (CCHS)?

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. There are less than 1,000 known cases all over the world.

Though the name describes the disorder as congenital, some forms of the disease may also be present in adults. In fact, adult onset is far more common than congenital presentation; there have been many adult cases reported in medical journals over the years.

The 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.

 

Causes:

  • 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, sudden mutation is more common than a transmission of the mutated gene from parent to child.

 

Treatment:

Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. People who have been diagnosed as newborns and adequately ventilated throughout childhood may reach the age of 20 to 30 years, and can live independently.

 

Sources: the hindu.

CategoriesINSIGHTS