Cerebrotendinous Xanthomatosis

Author:

Federico Antonio1,Dotti Maria Teresa1

Affiliation:

1. Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy,

Abstract

In this report, we review the clinical, biochemical, pathophysiologic, and therapeutic aspects of cerebrotendinous xanthomatosis. We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with chenodeoxycholic acid, an essential drug for this disorder that is no longer available. ( J Child Neurol 2003;18:633—638).

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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