Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico

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 be...

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Autores principales:	Filippi N,Jorge, Irarrázaval D,Sebastián, Peredo O,Pilar, Mellado T,Patricio
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2009
Materias:	Xanthomatosis cerebrotendinous Cholestanol Achules tendon
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000600013
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spelling	oai:scielo:S0034-988720090006000132009-09-04Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínicoFilippi N,JorgeIrarrázaval D,SebastiánPeredo O,PilarMellado T,Patricio Xanthomatosis cerebrotendinous Cholestanol Achules tendon 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.137 n.6 20092009-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000600013es10.4067/S0034-98872009000600013
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Xanthomatosis cerebrotendinous Cholestanol Achules tendon
spellingShingle	Xanthomatosis cerebrotendinous Cholestanol Achules tendon Filippi N,Jorge Irarrázaval D,Sebastián Peredo O,Pilar Mellado T,Patricio Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
description	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.
author	Filippi N,Jorge Irarrázaval D,Sebastián Peredo O,Pilar Mellado T,Patricio
author_facet	Filippi N,Jorge Irarrázaval D,Sebastián Peredo O,Pilar Mellado T,Patricio
author_sort	Filippi N,Jorge
title	Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
title_short	Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
title_full	Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
title_fullStr	Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
title_full_unstemmed	Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
title_sort	xantomatosis cerebrotendínea: una causa de aumento de volumen bilateral del tendón de aquiles. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2009
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000600013
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Xantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico

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