Congenital Central Hypoventilation Syndrome •

Congenital central hypoventilation syndrome (CCHS) is a rare disease that affects only around 1000 to 1200 people worldwide. CCHS affects the body’s ability to breathe normally. This is because this condition affects the autonomic nervous system, which controls many of the body’s automatic functions, such as: B. Breathing, bladder control, temperature control and recording the oxygen or carbon dioxide content in the blood.

CCHS is caused by a gene mutation. It is a life threatening syndrome if left untreated. At the moment it is a lifelong disease that has no cure. CCHS affects men and women equally. Because it is a gene mutation, it can be passed on from a parent, but it has been shown to be a sporadic gene mutation. If either parent has the CCHS gene mutation, they have a 50% chance of passing it on to a child.

Symptoms

The gene mutation is present before birth, but if a parent does not know whether they have the CCHS gene mutation, the diagnosis of CCHS is sometimes not overlooked until after the neonatal period. One of the first signs or symptoms of CCHS is difficulty breathing. The respiratory function can be spontaneous or not at all, especially during sleep. A person with CCHS may also have difficulty eating or feeding due to acid reflux. Absent or impaired Bowel function is another sign of CCHS. This can lead to severe constipation, bowel obstruction, and an enlarged colon. Learning disabilities or neurological problems can also be present in a person with CCHS. How severe or extreme these are depends on the person and the severity of the CCHS. People with CCHS also have a decreased response to light, which leads to abnormal pupils.

diagnosis

The main way to tell if you have CCHS is to get genetic testing. Once the mutated gene is confirmed, more studies may need to be done to make sure you are not suffering from other conditions that may be associated with CCHS. A sleep study may need to be done to diagnose the difficulty breathing. Breath, heart, and neurological tests may need to be done to rule out other conditions.

Other conditions that are common in people with CCHS include congenital myopathy, congenital myasthenia, and Moebius syndrome. Rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysfunction is a related disorder, but is separate from CCHS. It has many of the same symptoms but a rapid weight gain of up to 20 pounds in a short period of time.

A quick diagnosis is important so that treatment can be immediate. If CCHS is left untreated, it can cause long-term damage to the body and neurological functions due to the decreased amount of oxygen.

treatment

There is no cure for CCHS. Treatment focuses on breathing support. This can be done with a ventilator or a ventilator. Some young patients with CCHS may need to be ventilated 24 hours a day to get the necessary respiratory support. Some people may only need breathing assistance when they are sleeping. It depends on the severity of the condition and how severe the difficulty breathing is. Sometimes a surgical implant in the diaphragm can help with breathing problems. This implant provides electrical stimulation to the muscles to control breathing. To treat your CCHS, you may need a whole team of specialists to manage it. The team can consist of a pulmonologist, cardiologist, ENT specialist, gastroenterologist, neurologist, ophthalmologist and a speech therapist or speech pathologist.

Complications

People with CCHS need to be careful with anesthesia. Your body’s difficulty regulating your breathing can be harmful if you suffer from it, your body may not know how to make you breathe on its own. swim can also be difficult for people with CCHS as the body may forget that it needs to breathe underwater. As a result, no oxygen comes into the body for a long time. Prompt treatment and treatment for CCHS does not change life expectancy. Children with CCHS can lead active lifestyles as long as they are supervised. The damage from CCHS occurs when it is left untreated, leaving the body without oxygen for long periods of time. This can lead to numerous complications, including neurological. CCHS can be managed so you can live a full life.