Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome is a neurological disorder characterized by the absence of breathing or severely impaired breathing during sleep.

The condition is caused by the disturbance in the child’s brain development.

Congenital central hypoventilation syndrome is caused by a mutation in one or several genes involved in the development of nerve cells controlling respiration.

The most frequently associated gene with the syndrome is PH0X2B. This gene mutation affects the mechanism that sustains breathing during sleep and controls the respiratory response to varying metabolic conditions.

Therefore the automatic breathing control of the child is seriously impaired. PH0X2B gene is responsible for the control of nerve cells in the large intestine. It has also been associated with tumors known as neuroblastoma.

Congenital central hypoventilation syndrome symptoms:

The condition is often recognized in new born infants following a normal full time pregnancy. Child suffered oxygen deficiencies during labor are reported in some cases.

Children with congenital central hypoventilation syndrome hold some degree of spontaneous breathing, but during sleep they ventilate poorly or stop breathing.

While awake, 50% breathe normally and their oxygen uptake is normal. However, the carbon dioxide concentration is increased in the blood stream owing to impaired ventilation. Carbon dioxide levels rise rapidly during sleep and leads to reduction in the level of consciousness.

Breathing is controlled by impressions and responses to the surroundings in the waking state. Breathing is maintained during REM stage of sleep which is characterized by dreaming and high brain activity.

Certain reflexes need to take control of respiration to keep breathing in deep and dream less stages of sleep. These reflexes fail to function in congenital central hypoventilation syndrome.

The other symptoms of this syndrome associated with autonomous nervous system include reduced sweating ability, irregular heart beat and low body temperature. Eye abnormalities such as iris defects are sometimes seen.

Children do not develop always fever with this syndrome, but some suffer from recurrent pneumonia. Congenital central hypoventilation syndrome sufferers have trouble recognizing the need to urinate.

Congenital central hypoventilation syndrome diagnosis:

Diagnosis is made on various observations and performing breathing tests. Initial evaluation involves analysis of breathing movements. Oxygen saturation and heart frequency during sleep and waking state are recorded. This result is combined with eye movement and brain activity.

Breathing is measured without discomfort to the baby by using skin sensors to monitor carbon dioxide and oxygen saturation. The diagnosis is confirmed by testing the response of child to higher concentrations of carbon dioxide.

Congenital central hypoventilation syndrome treatment:

The treatment of congenital central hypoventilation syndrome involves ensuring adequate ventilation when the child is unable to breathe on their own. Most children require respiratory support when sleeping.

 As children with congenital central hypoventilation syndrome under breathe or stop breathing as soon as they fall asleep, it is important that they receive continuous observation so that ventilation can be started at the beginning of the sleep.

Congenital central hypoventilation syndrome is a life long condition. Proper care and monitoring of children can lead to active lives. With early diagnosis and treatment, children grow up to lead relatively independent lives.