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Pediatr Neonatol. 2014 Feb;55(1):68-70. doi: 10.1016/j.pedneo.2012.12.003. Epub 2013 Jan 20.

PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.

Author information

  • 1Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, Taiwan.
  • 2Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.
  • 3Department of Pediatrics, Chi-Mei Foundation Hospital, Tainan, Taiwan. Electronic address: qazzaq@ksmail.seed.net.tw.

Abstract

Congenital central hypoventilation syndrome (CCHS) is characterized by defective automatic regulation of breathing, mostly during sleep. The diagnostic criteria of CCHS include persistent sleep hypoventilation without primary cardiac, pulmonary disease or neuromuscular dysfunction, and no arousal response to hypoxemia and hypercapnia. Mutations in the PHOX2B gene have been indentified in 93-100% of patients with CCHS. We report a CCHS case with presentation of hypoventilation during sleep and Hirschsprung disease; moreover, a genetic study of the patient confirmed the PHOX2B gene mutation as polyanaline stretch.

KEYWORDS:

Hirschsprung disease; Ondine's curse; congenital central hypoventilation syndrome; sleep hypoventilation

PMID:
23597545
DOI:
10.1016/j.pedneo.2012.12.003
[PubMed - indexed for MEDLINE]
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