Congenital hypoventilation syndromes.
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.
Lesser
Daniel J
DJ
Childrens Hospital Los Angeles, Keck School of Medicine, University of Southern California, USA.
Ward
Sally L Davidson
SL
Kun
Sheila S
SS
Keens
Thomas G
TG
D001139:Arnold-Chiari Malformation / Q000150:complications / Q000503:physiopathology; D002648:Child; D004402:Dysautonomia, Familial / Q000150:complications / Q000503:physiopathology; D006801:Humans; D007040:Hypoventilation / Q000151:congenital / Q000503:physiopathology* / Q000628:therapy; D007223:Infant; D009765:Obesity / Q000150:complications / Q000503:physiopathology; D011218:Prader-Willi Syndrome / Q000150:complications / Q000503:physiopathology; D012121:Respiration, Artificial / Q000379:methods*; D013577:Syndrome