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Semin Respir Crit Care Med 2009; 30(3): 339-347
DOI: 10.1055/s-0029-1222448
© Thieme Medical Publishers

Congenital Hypoventilation Syndromes

Daniel J. Lesser1 , Sally L. Davidson Ward1 , Sheila S. Kun1 , Thomas G. Keens1
  • 1Division of Pediatric Pulmonology, Childrens Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California
Further Information

Publication History

Publication Date:
18 May 2009 (online)

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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

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