Clinical and Electrophysiological Reversal of Cerebrotendinous Xanthomatosis

Abstract We describe a patient who presented with spastic ataxic syndrome without cataract or xanthomas, and a diagnosis of cerebrotendinous xanthomatosis was made based on imaging and genetic tests. Magnetic resonance imaging of the brain revealed hyperintensities and mineralization of the bilateral dentate nuclei, and clinical exome sequencing showed a homozygous 5’ splice site variation in intron 6 of the CYP27A1 gene (chr2:219678911; G > A). The patient was treated with simvastatin 10 mg/day and ursodeoxycholic acid 300 mg/day. There was objective improvement in the clinical as well as the electrophysiological parameters following treatment. The report highlights the importance of a high index of suspicion, early diagnosis and timely treatment of this potentially reversible condition.