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Congenital Central Alveolar Hypoventilation Syndrome (Ondine's Curse) With Survival Into Adulthood
Benjamin D. Liess,
Jamie S. Dost,
Jerry W. Templer,
and
Joseph D. Tobias*
* To whom correspondence should be addressed. E-mail: Tobiasj{at}health.missouri.edu.
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Abstract |
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Ondine’s curse or central alveolar hypoventilation (CCAH) syndrome is a disorder of the autonomic nervous system resulting in respiratory dysregulation. The clinical outcome is typically poor, with few individuals living into adulthood and even fewer surviving to adulthood with normal neurological function. Our patient initially presented following an uncomplicated delivery with hypotonia, poor respiratory effort, and hypoxemia that required ventilatory support. Laboratory workup, radiographic evaluation, and ancillary testing ruled outbrainstem lesions, neuromuscular diseases, cardiovascular and pulmonary disease, and metabolic disorders, resulting in a diagnosis of CCAH syndrome. The patient underwent tracheotomy and chronic ventilatory support. Close long-term management and appropriate treatment modifications have provided for an excellent outcome and good quality of life. The patient is currently 22 years old and is earning her teaching degree for K-12 art education. A combination of early recognition and a multidisciplinary approach may lead to a successful outcome in patients with CCAH syndrome.
First published on July 3, 2008, doi:10.1177/0009922808320701
Clinical Pediatrics 2008;47:941.
A more recent version of this article appeared on November 1, 2008
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