Cerebral magnetic resonance spectroscopy in Rett syndrome Failure to detect mitochondrial disorder

Jytte Bieber Nielsen, Peter Bjerre Toft, Edith Reske-Nielsen, Karl Erik Jensen, Pernille Christiansen, Carsten Thomsen, Ole Henriksen, Hans Christensen Lou

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    Abstrakt

    A total of eight girls with Rett syndrome were examined, by 31phosphorous magnetic resonance spectroscopy (31P MRS) (4 girls), proton MRS (1H MRS) (4 girls), muscle biopsying (2 girls), and determination of pyruvate and lactate in plasma (5 girls), to investigate the hypothesis of a mitochondrial malfunction as the etiology for this neurologic disorder. Almost all examinations, including electron microscopy in search of structural mitochondrial abnormalities, gave normal results, the only exception being the not unexpected finding of slight neurogenic atrophy in the muscle biopsy specimen from a 15-year-old girl.

    OriginalsprogEngelsk
    Sider (fra-til)107-112
    Antal sider6
    TidsskriftBrain and Development
    Vol/bind15
    Udgave nummer2
    DOI
    StatusUdgivet - 1 jan. 1993

    Fingeraftryk Udforsk hvilke forskningsemner 'Cerebral magnetic resonance spectroscopy in Rett syndrome Failure to detect mitochondrial disorder' indeholder.

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