Congenital central alveolar hypoventilation syndrome

What is congenital central alveolar hypoventilation syndrome (CCHS)? 

CCHS is characterized by abnormal autonomic control of breathing during sleep.

Age of onset is typically during the infancy period; however, there are cases of late-onset central hypoventilation with hypothalamic dysfunction. The majority of cases of CCHS have been linked to the mutation of the homeobox gene PHOX2B .

During wakefulness, the control of breathing is normal. However, during NREM and REM sleep, respirations are shallow and irregular. CCHS is a diagnosis of exclusion.

Neurologic, cardiac, and metabolic disorders must be ruled out. In addition, other forms of central hypoventilation secondary to Arnold–Chiari malformation, trauma, central nervous system tumors, and obesity hypoventilation syndrome should be distinguished from CCHS.

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