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  1. 21 Σεπ 2020 · Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.

  2. 28 Ιαν 2004 · The treatment goals for CCHS are to secure the airway and to use chronic artificial ventilatory support at home to compensate for the hypoventilation and the altered/absent ventilatory responses to hypoxemia and hypercarbia.

  3. Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation. Purpose: (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS ...

  4. 25 Απρ 2020 · Central hypoventilation in adult patients is a rare life-threatening condition characterised by the loss of automatic breathing, more pronounced during sleep. In most cases, it is secondary to a brainstem lesion or to a primary pulmonary, cardiac or neuromuscular disease.

  5. Posterior fossa decompression successful in treating central apnea in some patients; some will require ventilation, often noninvasive ... Congenital central hypoventilation syndrome (CCHS) is a rare, lifelong condition that causes primary alveolar hypoventilation. ... Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr ...

  6. 14 Μαρ 2023 · Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It’s present at birth and affects a person throughout life. CCHS makes you hypoventilate (breathe too shallowly or too slowly), especially when sleeping. As a result, you don’t get enough oxygen and have too much carbon dioxide in your blood.

  7. Central alveolar hypoventilation disorders denote conditions resulting from underlying neurologic disorders affecting the sensors, the central controller, or the integration of the signals. Such disorders can lead to insufficient ventilation and an increase in PaCO 2 (hypercarbia), as well as a decrease in PaO 2 (hypoxemia).