Congenital Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome Definition
Congenital central hypoventilation syndrome, or CCHS, is a disease that affects the central nervous system. The disease is characterized by an impairment or absence in the body's automatic control for breathing. The patient's body forgets to breathe, even during sleep. The symptoms for congenital central hypoventilation syndrome can be mild or severe, but typical symptoms include abnormal pupils, which occur in 70% of cases; poor breathing functions especially during sleep, lack of spontaneous breathing, and bluish color in lips, nails, and skin due to breathing problems. Half of the patients with congenital central hypoventilation syndrome can breathe almost normally when they are awake; however, it is during sleep when they encounter difficulty breathing. Other characteristics to watch out for when diagnosing one with congenital central hypoventilation syndrome are: no muscular or respiratory problems that may cause the breathing difficulty; no heart disease; consistent poor breathing during sleep, and that the symptoms are noticed when the child is less than a year old and continues. Early diagnosis of the disease is important, because when it goes undetected, this may result in death. Once it is determined that a patient has congenital central hypoventilation syndrome, they can seek treatment for the disease. Prior to treatment, the patient will undergo a variety of tests, among the first will determine the severity of the problem. Other tests will determine the respiratory aspects of the disease, as well as neurological and cardiac tests. During the course of treatment, the patient will use breathing support apparatus, such a respirator. Some children may need to use it for 24 hours of the day. In more severe cases, patients undergo surgery that will allow them to use a surgical implant that provides electrical stimulation to the diaphragm muscle to help improve breathing. Studies show that genetics plays a role in the occurrence of congenital central hypoventilation syndrome. Research also shows that since 20% of the cases are accompanied by Hirschsprung disease, that there is an underlying connection that can be found in the genetics of the patients. Children born with congenital central hypoventilation syndrome can still lead normal and active lives; however, extra supervision is needed during certain activities such as swimming when the body can forget to breathe when in the water.