Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations

    April 2007 in “ Journal of child neurology ”
    Parayil Sankaran Bindu, Sanjib Sinha, AB Taly, Jerry M.E. Kovur, Narayanappa Gayathri, G. R. Arunodaya
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    TLDR An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
    The document describes the case of an 11-month-old boy diagnosed with Menkes kinky hair disease, characterized by developmental delays, myoclonic seizures, sparse and hypopigmented hair with areas of alopecia, and low levels of serum ceruloplasmin and copper. Neuroimaging revealed severe cerebral atrophy and delayed myelination, while magnetic resonance angiography indicated tortuous cerebral and neck vessels. The patient showed a poor response to symptomatic treatment.
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