• Clinics in chest medicine · Sep 2014

    Review

    Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.

    • Casey M Rand, Michael S Carroll, and Debra E Weese-Mayer.
    • Center for Autonomic Medicine in Pediatrics (CAMP), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL 60611-2605, USA.
    • Clin. Chest Med. 2014 Sep 1; 35 (3): 535-45.

    AbstractCongenital central hypoventilation syndrome (CCHS), a rare neurocristopathy with disordered respiratory control, is characterized by alveolar hypoventilation and diffuse autonomic nervous system (ANS) dysregulation. Mutations in the paired-like homeobox 2B (PHOX2B) are causative, leading to physiologic ANS dysregulation and pathologic abnormalities. Presentation is typically during the newborn period with alveolar hypoventilation during sleep, or in more severely affected individuals, during sleep and wakefulness. Breathing complications occur despite the lungs and airways being normal. Disordered respiratory control demonstrated by absent or severely attenuated ventilatory, behavioral, and arousal responses to both endogenous and exogenous hypoxemia and hypercarbia results in severe physiologic compromise. Copyright © 2014 Elsevier Inc. All rights reserved.

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