Central hypoventilation syndrome

Central hypoventilation syndrome (pronounced as: cen·tral hy·po·ven·ti·la·tion syn·drome) is a rare and serious disorder that affects the control of automatic breathing and results in hypoventilation, especially during sleep.

Etymology

The term "Central hypoventilation syndrome" is derived from the Greek words "kentron" (center), "hypo" (under), "ventilation" (breathing), and "syndrome" (a group of symptoms).

Definition

Central hypoventilation syndrome is a disorder characterized by a malfunction of the body's automatic control of breathing. It is a condition where the automatic control of breathing is impaired, leading to inadequate ventilation, especially during sleep.

Symptoms

The main symptom of central hypoventilation syndrome is hypoventilation, particularly during sleep, which can lead to hypoxemia (low blood oxygen levels) and hypercapnia (high blood carbon dioxide levels). Other symptoms may include difficulty in waking up, headaches, excessive sweating, and bluish coloration of the skin or lips (known as cyanosis) due to lack of oxygen.

Causes

Central hypoventilation syndrome is usually caused by mutations in the PHOX2B gene. This gene provides instructions for making a protein that is involved in the development of nerve cells, particularly those that control automatic functions such as heart rate, blood pressure, and breathing.

Treatment

Treatment for central hypoventivation syndrome typically involves the use of a ventilator to assist with breathing, particularly during sleep. Other treatments may include supplemental oxygen, medication to manage symptoms, and in severe cases, tracheostomy.

Related Terms

• Hypoventilation
• Hypoxemia
• Hypercapnia
• Cyanosis
• PHOX2B
• Tracheostomy

External links

• Medical encyclopedia article on Central hypoventilation syndrome
• Wikipedia's article - Central hypoventilation syndrome

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