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Cerebrotendinous xanthomatosis revisited
Seyed Mohammad Baghbanian1, Mohammad Reza Mahdavi Amiri2, Hadi Majidi3
1Faculty of Medicine, Department of Neurology, Mazandaran University of Medical Sciences, Sari, Iran mohammadbaghbanian@gmail.com.
Practical Neurology
|April 15, 2021
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.

