What is
Congenital Central Hypoventilation Syndrome (CCHS)?
Central hypoventilation syndrome is a
respiratory
disorder that results in respiratory arrest during sleep or,
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.
acquired Central
hypoventilation syndromeACHS can develop as a result of severe
injury or trauma to the brain
or brainstem.
Ondine’s
Curse
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.
The
Reason for this disease
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
People generally require tracheostomy
and lifetime mechanical ventilation on a ventilator in order to survive.
However, it has now been shown that biphasic cuirass
ventilation can effectively be used without the
need for a tracheotomy. Other potential treatments for Ondine's curse include
oxygen therapy and medicine for stimulating the respiratory system. Currently,
problems arise with the extended use of ventilators, including fatal infections
and pneumonia.
Most people with CCHS (unless they have the Late Onset form) do
not survive infancy, unless they receive ventilatory assistance during sleep.
An alternative to a mechanical ventilator is diaphragm pacing
