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

Simple item page
dc.catalogadordfo
dc.contributor.authorFilippi Nussbaum, Jorge Luis
dc.contributor.authorIrarrázaval, Sebastián
dc.contributor.authorPreredo O., Pilar
dc.contributor.authorMellado T., Patricio
dc.date.accessioned2024-01-22T16:22:20Z
dc.date.available2024-01-22T16:22:20Z
dc.date.issued2009
dc.description.abstractCerebrotendinous 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 extrapyramidal 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 Achilles tendons. High levels of plasmatic cholestanol and magnetic resonance imaging confirmed the diagnosis of this disease.
dc.fechaingreso.objetodigital2024-05-24
dc.fuente.origenORCID-ene24
dc.identifier.doi10.4067/S0034-98872009000600013
dc.identifier.issn0034-9887
dc.identifier.urihttp://dx.doi.org/10.4067/S0034-98872009000600013
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80887
dc.information.autorucEscuela de Medicina; Filippi Nussbaum, Jorge Luis; 0000-0002-0222-3086; 10948
dc.information.autorucEscuela de Medicina; Irarrázaval, Sebastián; 0000-0002-1215-1709; 12853
dc.issue.numero6
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final820
dc.pagina.inicio815
dc.revistaRevista médica de Chile
dc.rightsacceso abierto
dc.subjectXanthomatosis, cerebrotendinous
dc.subjectCholestanol
dc.subjectAchules tendon
dc.subject.ddc600
dc.subject.deweyTecnologíaes_ES
dc.titleXantomatosis cerebrotendínea: Una causa de aumento de volumen bilateral del tendón de Aquiles. Caso clínico
dc.title.alternativeCerebrotendinous xanthomatosis. Report of one case
dc.typeartículo
dc.volumen137
sipa.codpersvinculados10948
sipa.codpersvinculados12853
sipa.trazabilidadScopus;12-10-2021
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Xantomatosis cerebrotendinea Una causa de aumento de volumen bilateral del tendon de Aquiles.pdf
Size:
161.72 KB
Format:
Adobe Portable Document Format
Description:
Download
Collections
Artículos de revistas