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Journal of Child Neurology, Vol. 18, No. 9, 633-638 (2003)
DOI: 10.1177/08830738030180091001

Cerebrotendinous Xanthomatosis

Clinical Manifestations, Diagnostic Criteria, Pathogenesis, and Therapy

Antonio Federico

Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy, federico{at}unisi.it

Maria Teresa Dotti

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

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).


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