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Case Reports
. 2011 Sep;26(5):356-8.
doi: 10.5001/omj.2011.87.

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

Ismail Al Rashdi  1 , Mohammed Al Ghafri, Said Al Hanshi, Nabil Al Macki
Affiliations
Case Reports

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

Ismail Al Rashdi et al. Oman Med J. 2011 Sep.

Abstract

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.

Keywords: Alveolar hypoventilation; Autonomic nervous system; Heterozygous; Hirschsprung disease; Late onset central hypoventilation syndrome; PHOX2B; Polyalanine repeat.

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References

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