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A Japanese girl with leukoencephalopathy with vanishing white matter

  • Chitose Sugiura
    Correspondence
    Corresponding author. Fax: +81-859-34-8135
    Affiliations
    Department of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1, Nishichou, Yonago, Tottori 683-8504 Japan
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  • Hajime Miyata
    Affiliations
    Department of Neuropathology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Tottori, Japan
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  • Akira Oka
    Affiliations
    Department of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1, Nishichou, Yonago, Tottori 683-8504 Japan

    Department of Clinical Laboratory, National Hospital for Mental Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Japan.
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  • Sachio Takashima
    Affiliations
    Department of Clinical Laboratory, National Hospital for Mental Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Japan.
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  • Eisaku Ohama
    Affiliations
    Department of Neuropathology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Tottori, Japan
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  • Kenzo Takeshita
    Affiliations
    Department of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1, Nishichou, Yonago, Tottori 683-8504 Japan
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      Abstract

      A Japanese girl with peculiar leukoencephalopathy was reported. Following normal development until 1 year of age, she showed progressive neurological deterioration with ataxia, epilepsy, pyramidal tract signs and choreic movement. Serial brain computed tomographies (CTs) revealed markedly low density and progressive volume loss in whole white matter. In extensive laboratory investigations, the level of glycine in the urine was elevated. She died at the age of 4 years, and the neuropathological findings were comprised of severe extensive changes in cerebral and cerebellar white matter, such as marked rarefaction or cystic degeneration with axonal loss. The pontine central tegmental tracts were also affected. Neuronal loss was seen in the cerebellar cortex. These features were compatible with leukoencephalopathy with vanishing white matter, which was recently established as a clinical entity. To our knowledge, this is the first report of a non-Caucasian patient with this new type of leukoencephalopathy.

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