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Neurological rarities
Cerebrotendinous xanthomatosis revisited
  1. Seyed Mohammad Baghbanian1,
  2. Mohammad Reza Mahdavi Amiri2,
  3. Hadi Majidi3
  1. 1 Faculty of Medicine, Department of Neurology, Mazandaran University of Medical Sciences, Sari, Iran
  2. 2 Laboratory Sciences, Medical Genetics, School of Allied Medical Sciences, Thalassemia Research Center, Hemoglobinopathy Research Institute, Mazandaran University of Medical Sciences, Sari, Iran
  3. 3 Department of Radiology, Orthopedic Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
  1. Correspondence to Dr Seyed Mohammad Baghbanian, Faculty of Medicine, Department of Neurology, Mazandaran University of Medical Sciences, Sari, Iran (the Islamic Republic of); mohammadbaghbanian{at}gmail.com

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

http://dx.doi.org/10.1136/practneurol-2020-002895

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    Footnotes

    • Twitter @smbaghbanian

    • Contributors SMB was the attending doctor of the patient and performed the neurological examination, prescribed medicines and decided the patient’s management. MRMA served scientific advice about whole-exome sequencing and genetic consultation. HM performed scientific advice about MRI findings.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed by Marios Hadjivasssiliou, Sheffield, UK.

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