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Revista médica de Chile

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FILIPPI N, Jorge; IRARRAZAVAL D, Sebastián; PEREDO O, Pilar  and  MELLADO T, Patricio. Cerebrotendinous xanthomatosis: Report of one case. Rev. méd. Chile [online]. 2009, vol.137, n.6, pp.815-820. ISSN 0034-9887.

Cerebrotendinous xanthomatosis is an inherited autosomal recessive disease caused by a mutation in the gene for the sterol 27-hydroxylase enzyme, which determines the accumulation of plasmatic cholestanol in various tissues. The natural history of this disease is characterized by chronic diarrhea beginning in childhood, cataract in youth, tendinous xanthomas in adulthood and later progressive neurological dysfunction manifested as dementia, psychiatric disorders, cerebellar, pyramidal or extra pyramidal signs or seizures. We report a 39 year-old male with a history of diarrhea during childhood and bilateral cataracts requiring surgery at 20 years of age, who evolves later with psychiatric disorders and bilateral increased volume in Achules tendons. High levels of plasmatic cholestanol and magnetic resonance imaging confirmed the diagnosis of this disease.

Keywords : Xanthomatosis; cerebrotendinous; Cholestanol; Achules tendon.

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