Treating hypoxia in a feeble breather with Rett syndrome.

Peter O O Julu, Ingegerd Witt Engerström, Stig Hansen, Flora Apartopoulos, Bengt Engerström, ESSRA group

Breakspear Medical Group, Hertfordshire, United Kingdom. p.julu@imperial.ac.uk

Brain & development 2013 Mar

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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 pO(2) and pCO(2). We conclude that subtle changes in the levels of blood gases significantly affect cortical function in RS. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Citation

Peter O O Julu, Ingegerd Witt Engerström, Stig Hansen, Flora Apartopoulos, Bengt Engerström, ESSRA group. Treating hypoxia in a feeble breather with Rett syndrome. Brain & development. 2013 Mar;35(3):270-3