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Pediatr Pulmonol. 1998 Oct;26(4):273-82.

Congenital central hypoventilation syndrome: an update.

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Constance S. Kaufman Pediatric Pulmonary Research Laboratory, Department of Pediatrics, Tulane University School of Medicine, New Orleans, Louisiana 70112, USA.


Awareness of the existence of CCHS has led to increasingly frequent reports of such patients from all over the world. However, the exact pathophysiologic mechanisms underlying the clinical manifestations of this congenital disease entity remain unknown. For the respiratory physiologist, CCHS can be viewed as an experiment of nature that provides an important and unique window into central cardiorespiratory regulation. For the pediatrician, CCHS children represent an unique clinical challenge in coordinating the diagnostic and therapeutic procedures required to enhance the patients' quality of life.

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