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PHOX2B Mutation–confirmed Congenital Central Hypoventilation Syndrome

Presentation in Adulthood

Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, South Australia, Australia; Sleep Disorders Division, Department of Neurology, Vanderbilt University Medical Center, Nashville; Department of Pediatrics, T.C. Thompson Children's Hospital, Chattanooga, Tennessee; Division of Pulmonary Sciences and Critical Care Medicine, University of Colorado Health Sciences Center, Denver, Colorado; Department of Pediatrics, Neurology, and Biochemistry, and Division of Pediatric Respiratory Medicine, Department of Pediatrics, Rush University Medical Center, Chicago, Illinois; Salford Royal Hospitals NHS Trust Hope Hospital, Salford; Department of Pediatrics, University Hospital of North Staffordshire, Stoke on Trent, United Kingdom; and Department of Respiratory Medicine, University Hospital, Freiburg, Germany

Correspondence and requests for reprints should be addressed to Debra E. Weese-Mayer, M.D., Division of Pediatric Respiratory Medicine, Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612. E-mail: Debra_E_Weese-Mayer{at}rsh.net

Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five 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 five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.

Key Words: congenital central hypoventilation syndrome • PHOX2B gene

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