Clinical and Radiological Findings of a Cerebrotendinous Xanthomatosis Patient with a Novel p.A335V Mutation in the <i>CYP27A1</i> Gene

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Author(s)

    • Yoshinaga Tsuneaki
    • Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
    • Sekijima Yoshiki
    • Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan
    • Koyama Shingo
    • Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Japan
    • Maruyama Keiko
    • Department of Medicine (Internal Medicine and Neurology), Fujimi Kogen Medical and Welfare Center, Japan
    • Yoshida Toshikazu
    • Department of Medicine (Internal Medicine and Neurology), Fujimi Kogen Medical and Welfare Center, Japan
    • Kato Takeo
    • Department of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, Japan
    • Ikeda Shu-ichi
    • Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan

Abstract

We herein describe the case of a Japanese cerebrotendinous xanthomatosis (CTX) patient with a novel <i>CYP27A1</i> gene mutation. The patient had been diagnosed with cataracts at 25 years of age and subsequently developed neurological symptoms in his forties, being referred to our hospital at 47 years of age. Upon admission, Achilles tendon xanthomas, cognitive impairment, dysphagia, dysarthria, dystonia, spasticity, muscle weakness and ataxia were observed. Brain MRI revealed abnormal signals in the dentate nuclei, periventricular white matter and pyramidal tract, and the serum cholestanol level was elevated. A <i>CYP27A1</i> gene analysis identified compound heterozygosity for p.A335V, a novel mutation, and p.R405Q, a previously reported mutation. Making an early diagnosis of CTX is crucial, as the administration of chenodeoxycholic acid reverses metabolic derangement.<br>

Journal

  • Internal Medicine

    Internal Medicine 53(23), 2725-2729, 2014

    The Japanese Society of Internal Medicine

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