Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid

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  • Tamura Asako
    Department of Neurology, Mie University Graduate School of Medicine
  • Sasaki Ryogen
    Department of Neurology, Mie University Graduate School of Medicine
  • Kagawa Ken
    Department of Neurology, Mie University Graduate School of Medicine
  • Nakatani Kaname
    Department of Molecular and Laboratory Medicine, Mie University Graduate School of Medicine
  • Osaka Hitoshi
    Division of Neurology, Kanagawa Children’s Medical Center
  • Tomimoto Hidekazu
    Department of Neurology, Mie University Graduate School of Medicine

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Other Title
  • 後方優位の白質脳症を呈し，葉酸をふくむビタミン投与が著効したメチレンテトラヒドロ葉酸還元酵素欠損症の1例
  • 症例報告 後方優位の白質脳症を呈し,葉酸をふくむビタミン投与が著効したメチレンテトラヒドロ葉酸還元酵素欠損症の1例
  • ショウレイ ホウコク コウホウ ユウイ ノ ハクシツ ノウショウ オ テイシ,ヨウサン オ フクム ビタミン トウヨ ガ チョコウシタ メチレンテトラヒドロ ヨウサン カンゲン コウソ ケッソンショウ ノ 1レイ

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Abstract

A 35-year-old woman was admitted with subacute intellectual deterioration. Laboratory studies showed elevated total homocysteine and decreased folic acid. MRI revealed leukoencephalopathy with a posterior predominance, and hyperintensity in the pyramidal tracts on T2-weighted and FLAIR images. The enzyme assay showed a deficiency of methylenetetrahydrofolate reductase (MTHFR) activity with low residual activity of 4.2% of the mean control value in cultured fibroblasts. Sequence analysis of the MTHFR gene demonstrated two homozygous missense mutations, c.677C>T (p.Ala222Val) and c.685A>C (p.Ile225Leu). c.677C>T (p.Ala222Val) is known as a common polymorphism and c.685A>C (p.Ile225Leu) is considered to be a novel polymorphism. A diagnosis of MTHFR deficiency was made. Treatment with folic acid, vitamin B12 and B6 made significant improvement of intellectual deterioration and reduction in the total homocysteine level. They also made marked resolution of leukoencephalopathy. Posterior-predominant leukoencephalopathy was found to be an excellent marker of MTHFR deficiency, and may help to establish the diagnosis.

Journal

  • Rinsho Shinkeigaku

    Rinsho Shinkeigaku 54 (3), 200-206, 2014

    Societas Neurologica Japonica

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