Central Cogenital Hypoventilation Syndrome

Central natural Hypoventilation Syndrome What is CCHS? Many people around the world stop breathing when they go to sleep. Why? Its because they strike a syndrome c wholeed Central Congenital Hypoventilation Syndrome or Ondines Curse. What is this? Congenital central hypoventilation syndrome (CCHS) is a rarified syndrome, present from birth, and is delimit as the failure of automatic control of breathing.. virtually whitethorn entirely have apnea when asleep, but in some severe cases they may eff apnea musical composition awake.Ab away 300 churlren worldwide have this syndrome. History In a French folktale, a nymph named Ondine was a water goddess. Like all nymphs and mermaids, if they was to declivity in love with a mortal and bears his child, then they would date like a mortal. Meaning they would lose their everlasting beauty. Ondine ends falling in love with a mortal, and a year into the marriage, she bears a son. Then Ondine finds step forward that the mortal has been unfaithful with his former fiance. Ondine puts a curse on him, express for so long he is wake, he shall breathe.But if he shall ever fall into sleep, breathe pass on desert him. This is where the name Ondines curse is from. Causes CCHS is caused by mutations of the PHOX2B gene. The PHOX2B gene provided instructions for making a protein that acts early in using to help promote the formation of nerve cells and regulate the process by which the neurons mature to carry out specific functions. 90 percent of cases of CCHS ensue from new mutations in the PHOX2B gene. Children who have CCHS there is no history in their family of this syndrome.CCHS is exhibited typically as a congenital disorder, but in rare bathroom result from severe brain or spinal trauma, which stack result from automobile accident, stroke or as a contortion of neurosurgery. In one case a woman was diagnosed with CCHS because of her chronic alcoholism. Symptoms Some symptoms that victims may experience are shallo w breathing, night apnea, brain damage, hypoxemia, hypercapnia, acidosis, and dysphagia. It may cause hirschsprung sickness or neuroblastoma.Hypoxemia is an abnormally low concentration of type O in the blood. Hypercapnia is the physical designer of having the presence of an abnormally high school level of carbon dioxide in the circulating blood. Acidosis is an excessively acid condition of the body fluids or tissues. Dysphagia is condition in which swallowing is difficult or painful. Hirschsprung disease involves an enlargement of the colon, caused by bowel obstruction. Neuroblastoma is a malignant tumor represent of neuroblasts, most comm altogether in the adrenal gland TreatmentIf an baby is suspected to have CCHS a sleep study is ordered and performed to adjudicate how server the breathing difficulty is. Cardiac and neurological examinations are do to rule out any other type of disorder. Early diagnosis is prominent because if not caught the infants oxygen level will keep decrease until the child toilettenot breathe on their own. One diagnosed the child will either be on a respirator (ventilator) while asleep or other may be on the respirator for 24 hours day. To use the respirator individuals will have to have a tracheotomy performed.Tracheotomy is a surgical operation that creates an opening into the trachea with a tube inserted to provide a passage for air. Some infants may have a surgical implant in the diaphragm muscle can allow electrical stimulation of the muscle to control breathing. Mistakes are make Many children are diagnosed with a different disease or syndrome when they rattling have CCHS. Infants with CCHS may be mistakenly popular opinion to have meat defects. Some infants that have unrecognized CCHS may die and be thought to have SIDS or Sudden Infant Death Syndrome.Children with CCHS Children with CCHS can live a normal life. They can go to school, go out with friends, or hang out with family just like other kids. The only real precaution children with CCHS has to be supervised while there in the bathtub or pool. They may forget to breathe while underwater. This may cause them to breathe in some water. Central Congenital Hypoventilation Syndrome is a lifelong syndrome. If children with CCHS is treated right their life expectancy will not be alter. They can live a full healthy life.