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Xantomatosis cerebrotendínea: una causa de aumento de volumen bilateral del tendón de Aquiles: caso clínico / Cerebrotendinous xanthomatosis: report of one case
Filippi N, Jorge; Irarrázaval D, Sebastián; Peredo O, Pilar; Mellado T, Patricio.
  • Filippi N, Jorge; Pontificia Universidad Católica de Chile. Departamento de Ortopedia y Traumatología. Santiago. CL
  • Irarrázaval D, Sebastián; Pontificia Universidad Católica de Chile. Departamento de Ortopedia y Traumatología. Santiago. CL
  • Peredo O, Pilar; Universidad de Valparaíso. Departamento de Neurología. CL
  • Mellado T, Patricio; Pontificia Universidad Católica de Chile. Departamento de Neurología. Santiago. CL
Rev. méd. Chile ; 137(6): 815-820, jun. 2009. ilus
Article in Spanish | LILACS | ID: lil-524963
ABSTRACT
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.
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Full text: Available Index: LILACS (Americas) Main subject: Achilles Tendon / Xanthomatosis, Cerebrotendinous Type of study: Etiology study Limits: Adult / Humans / Male Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2009 Type: Article Affiliation country: Chile Institution/Affiliation country: Pontificia Universidad Católica de Chile/CL / Universidad de Valparaíso/CL

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Full text: Available Index: LILACS (Americas) Main subject: Achilles Tendon / Xanthomatosis, Cerebrotendinous Type of study: Etiology study Limits: Adult / Humans / Male Language: Spanish Journal: Rev. méd. Chile Journal subject: Medicine Year: 2009 Type: Article Affiliation country: Chile Institution/Affiliation country: Pontificia Universidad Católica de Chile/CL / Universidad de Valparaíso/CL