A case of adult onset vanishing white matter disease developed after minor head trauma

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  • Koga Shunsuke
    Department of Neurology, Graduate School of Medicine, Chiba University
  • Sekiguchi Yukari
    Department of Neurology, Graduate School of Medicine, Chiba University
  • Kanai Kazuaki
    Department of Neurology, Graduate School of Medicine, Chiba University
  • Mutoh Mayumi
    Department of Neurology, Graduate School of Medicine, Chiba University
  • Kuwabara Satoshi
    Department of Neurology, Graduate School of Medicine, Chiba University

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Other Title
  • 頭部外傷後に発症した成人型vanishing white matter diseaseが疑われる20歳男性例
  • 症例報告 頭部外傷後に発症した成人型vanishing white matter diseaseが疑われる20歳男性例
  • ショウレイ ホウコク トウブ ガイショウ ゴ ニ ハッショウ シタ セイジンガタ vanishing white matter disease ガ ウタガワレル 20サイ ダンセイレイ

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Description

A 20-year-old previously healthy man presented with prolonged consciousness alteration and severe hypertonia in the extremities after minor head trauma. Laboratory blood tests and cerebrospial fluid (CSF) tests were unremarkable except for an elevated CSF glycine concentratons. Brain MRI revealed hypoplasia of corpus callosum, enlargement of lateral cerebral ventricle and high signal intensity in the bilateral white matter on T2 weighted images. On fluid attenuated inversion recovery images, the signal intensity resembled that of CSF in the central areas of T2 alterations, surrounded by a rim of hyperintensity. These characteristic history and the results of brain MRI and CSF, the diagnosis of vanishing white matter disease (VWMD) was made.<br> VWMD is a rare autosomal recessive leukoencephalopathy which typically begins during infancy or early childhood with a chronic progressive neurological deterioration with cerebellar ataxia and spasticity. Recently, milder variants of the disease with adult onset have been reported. VWMD should be included in the differential diagnosis of leucoencephalopathy in young adults.<br>

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 52 (8), 561-566, 2012

    Societas Neurologica Japonica

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