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Published ahead of print on July 27, 2006, doi:10.1164/rccm.200605-607CR

Am. J. Respir. Crit. Care Med., Volume 174, Number 8, October 2006, 923-927

A more recent version of this article appeared on October 15, 2006
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Submitted on May 4, 2006
Accepted on July 27, 2006

PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome: Presentation in Adulthood

Nick A Antic1*, Beth A Malow2, Neale Lange3, R. Doug McEvoy1, Amy L Olson3, Peter Turkington4, Wolfram Windisch5, Martin Samuels6, Cathy A Stevens7, Elizabeth M Berry-Kravis8, and Debra E Weese-Mayer9

1 Adelaide Institute for Sleep Health, Repatriation General Hospital, Adelaide, SA, Australia, 2 Department of Neurology and Sleep Disorders Division, Vanderbilt University Medical Center, Nashville, Tennessee, USA, 3 Division of Pulmonary Sciences and Critical Care Medicine, University of Colorado Health Sciences Center, Denver, Colorado, USA, 4 Department of Pulmonary Medicine, Salford Royal Hospitals NHS Trust Hope Hospital, Salford, United Kingdom, 5 Department of Respiratory Medicine, University Hospital, Freiburg, Germany, 6 Department of Pediatrics, University Hospital of North Staffordshire, Stoke on Trent, United Kingdom, 7 Department of Pediatrics, T.C. Thompson Children's Hospital, Chattanooga, USA, 8 Department of Pediatrics, Neurology and Biochemistry, Rush University Medical Center, Chicago, Illinois, USA, 9 Division of Pediatric Respiratory Medicine, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA

* To whom correspondence should be addressed. E-mail: nick.antic{at}rgh.sa.gov.au.

Congenital Central Hypoventilation Syndrome (CCHS) typically presents in the newborn period. A case series of 5 adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only 5 extra alanines; 3 of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.
Key words: PHOX2B gene, Congenital Central Hypoventilation Syndrome




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