Abstract
Rett syndrome (RS) is a unique X-linked dominant neurodevelopmental disorder affecting
1 in 10,000 females. Mutations in the MECP2 gene located on Xq28 have been identified. Many of the characteristic features evolve
due to immaturity of the brain in RS. Cardiorespiratory function should be investigated
early to characterise the clinical phenotype of the person with RS because each of
the three cardiorespiratory phenotypes; apneustic, feeble and forceful breathers have
unique and different management strategies. We report a case of a feeble breather
showing a correlation between cortical function and tissue pO2 and pCO2. We conclude that subtle changes in the levels of blood gases significantly affect
cortical function in RS.
Keywords
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Article Info
Publication History
Published online: May 22, 2012
Accepted:
April 25,
2012
Received in revised form:
April 23,
2012
Received:
February 10,
2012
Identification
Copyright
© 2012 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
