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Cerebrotendinous xanthomatosis revisited

Abstract

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia.

  • cerebrotendinous xan
  • cerebellar ataxia
  • MRI

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  • Editors’ commentary
    Geraint N Fuller Phil E M Smith
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