Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

• Main Authors: Nabil Al Macki, Said Al Hanshi, Mohammed Al Ghafri, Ismail Al Rashdi
• Format: Article
• Language: English
• Published: Oman Medical Specialty Board 2011-09-01
• Series: Oman Medical Journal
• Subjects: Late onset central hypoventilation syndrome; Alveolar hypoventilation; Autonomic Nervous System; Hirschsprung Disease; Polyalanine repeat; PHOX2B; heterozygous
• Online Access: http://journals.indexcopernicus.com/fulltxt.php?ICID=969369
• ISSN: 1999-768X; 2070-5204

 This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.