The Journal of the Association of Physicians of India 2007-Sep
Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.
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Abstract
Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).