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Menkes' disease: neurophysiological aspects

E Friedman, A Harden, M Koivikko

    Journal of Neurology, Neurosurgery, and Psychiatry
    |June 1, 1978
    PubMed
    Summary
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    Neurophysiological features in Menkes disease were studied using electroencephalogram (EEG) and visual evoked potentials (VEP). Abnormal EEGs appeared early, while VEPs were often absent, with copper injections showing limited efficacy.

    Area of Science:

    • Neuroscience
    • Pediatric Neurology
    • Medical Genetics

    Background:

    • Menkes disease is a rare genetic disorder affecting copper metabolism.
    • Neurophysiological abnormalities are characteristic but poorly understood.
    • Early diagnosis and intervention are crucial for patient outcomes.

    Purpose of the Study:

    • To investigate the neurophysiological evolution in Menkes disease.
    • To characterize electroencephalogram (EEG), electroretinogram (ERG), and visual evoked potentials (VEP) changes.
    • To assess the impact of copper supplementation on neurophysiological parameters.

    Main Methods:

    • Longitudinal neurophysiological assessment of eight infants with Menkes disease.
    • Recording and analysis of EEG, ERG, and VEP.

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  • Clinical evaluation and monitoring of treatment response to copper injections.

    • Main Results:

    • All EEGs showed severe abnormalities, with hypsarrhythmic patterns emerging by 5 months.
    • ERGs were normal in all patients.
    • VEPs were abnormal (low amplitude or absent) in most patients tested.
    • Copper injections did not significantly alter clinical course or EEG findings.

    Conclusions:

    • Early and severe EEG abnormalities are indicative of Menkes disease.
    • VEP deficits suggest significant visual pathway involvement.
    • Current copper supplementation strategies may not reverse established neurophysiological damage.