Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico

Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surge...

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Autores principales:	Contreras,Juan P., Guajardo,Gonzalo, Martínez,Arturo, López,Ingeborg, Cea,Gabriel
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2019
Materias:	Chenodeoxycholic Acid Cholestanol Xanthomatosis Xanthomatosis, Cerebrotendinous
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000500658
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spelling	oai:scielo:S0034-988720190005006582020-02-28Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínicoContreras,Juan P.Guajardo,GonzaloMartínez,ArturoLópez,IngeborgCea,Gabriel Chenodeoxycholic Acid Cholestanol Xanthomatosis Xanthomatosis, Cerebrotendinous Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas. Cerebral magnetic resonance imaging showed an increase of the signal intensity on the T2-weighted images in periventricular cerebral white matter, dentate nuclei and spinal cord. With a high suspicion of CXT, a genetic study was conducted identifying a pathogenic variant in the CYP27A1 gene. There is considerable variation in clinical characteristics and age of onset of this disease, including absence of tendon xanthomas, delaying the diagnosis. Early recognition and chronic chenodeoxycholic acid therapy can improve outcome and quality of life.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.147 n.5 20192019-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000500658es10.4067/S0034-98872019000500658
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Chenodeoxycholic Acid Cholestanol Xanthomatosis Xanthomatosis, Cerebrotendinous
spellingShingle	Chenodeoxycholic Acid Cholestanol Xanthomatosis Xanthomatosis, Cerebrotendinous Contreras,Juan P. Guajardo,Gonzalo Martínez,Arturo López,Ingeborg Cea,Gabriel Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
description	Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive disease caused by deficiency of 27-sterol-hydroxylase that results in an accumulation of cholestanol in the central nervous system, eyes, tendons, and blood vessels. We report a 22-year-old woman with a history of cataract surgery at the age of 14, cholecystectomy due to cholelithiasis at the age of 17 and chronic diarrhea, who presented with a six months period of gait instability and frequent falls. Physical examination revealed a bilateral pyramidal and cerebellar syndrome, with no visible tendon xanthomas. Cerebral magnetic resonance imaging showed an increase of the signal intensity on the T2-weighted images in periventricular cerebral white matter, dentate nuclei and spinal cord. With a high suspicion of CXT, a genetic study was conducted identifying a pathogenic variant in the CYP27A1 gene. There is considerable variation in clinical characteristics and age of onset of this disease, including absence of tendon xanthomas, delaying the diagnosis. Early recognition and chronic chenodeoxycholic acid therapy can improve outcome and quality of life.
author	Contreras,Juan P. Guajardo,Gonzalo Martínez,Arturo López,Ingeborg Cea,Gabriel
author_facet	Contreras,Juan P. Guajardo,Gonzalo Martínez,Arturo López,Ingeborg Cea,Gabriel
author_sort	Contreras,Juan P.
title	Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
title_short	Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
title_full	Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
title_fullStr	Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
title_full_unstemmed	Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico
title_sort	xantomatosis cerebrotendinosa sin xantomas tendíneos. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2019
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872019000500658
work_keys_str_mv	AT contrerasjuanp xantomatosiscerebrotendinosasinxantomastendineoscasoclinico AT guajardogonzalo xantomatosiscerebrotendinosasinxantomastendineoscasoclinico AT martinezarturo xantomatosiscerebrotendinosasinxantomastendineoscasoclinico AT lopezingeborg xantomatosiscerebrotendinosasinxantomastendineoscasoclinico AT ceagabriel xantomatosiscerebrotendinosasinxantomastendineoscasoclinico
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Xantomatosis cerebrotendinosa sin xantomas tendíneos. Caso clínico

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