ABSTRACT
Although rare, congenital hypoventilation syndromes profoundly impact affected patients
and families. In some diseases, such as congenital central hypoventilation syndrome
(CCHS), hypoventilation is a key presenting feature. Ventilatory abnormalities may
not be immediately evident in other disease states. The clinical aspects of several
pediatric hypoventilation syndromes, including CCHS, Chiari type II malformation,
Prader-Willi syndrome, familial dysautonomia, and rapid onset obesity with hypothalamic
dysfunction, hypoventilation, and autonomic dysregulation are presented.
KEYWORDS
Central hypoventilation syndrome - respiratory control disorder - home mechanical
ventilation
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Thomas G Keens M.D.
Division of Pediatric Pulmonology, Childrens Hospital Los Angeles
4650 Sunset Blvd., MS#83, Los Angeles, CA 90027-6062
eMail: tkeens@chla.usc.edu