Treating hypoxia in a feeble breather with Rett syndrome


      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.


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        • Percy A.K.
        Rett syndrome: recent research progress [Review] [59 refs.].
        J Child Neurol. 2008; 23: 543-549
        • Julu P.O.
        • Engerstrom I.W.
        • Hansen S.
        • Apartopoulos F.
        • Engerstrom B.
        • Pini G.
        • et al.
        Cardiorespiratory challenges in Rett’s syndrome.
        Lancet. 2008; 14: 1981-1983
        • Julu P.O.
        • Kerr A.M.
        • Apartopoulos F.
        • Al-Rawas S.
        • Engerstrom I.W.
        • Engerstrom L.
        • et al.
        Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder.
        Arch Dis Child. 2001; 85: 29-37
        • Julu P.O.
        • Witt Engerstrom I.
        Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome.
        Brain Dev. 2005; 27: S43-S53
        • Acker T.
        • Acker H.
        Cellular oxygen sensing need in CNS function: physiological and pathological implications.
        J Exp Biol. 2004; 207 ([Review] [186 refs]): 18-88
        • Engerstrom I.W.
        Rett syndrome in Sweden. Neurodevelopment–disability–pathophysiology.
        Acta Paediatr Scand Suppl. 1990; 369: 1-60
        • Lagerkvist A.L.
        • Sten G.
        • Redfors S.
        • Holmgren D.
        Repeated blood gas monitoring in healthy children and adolescents by the transcutaneous route.
        Pediatr Pulmonol. 2003; 35: 274-279