Xantomatosis cerebrotendínea: una causa de aumento de volumen bilateral del tendón de Aquiles: caso clínico / Cerebrotendinous xanthomatosis: report of one case
Rev. méd. Chile
;
137(6): 815-820, jun. 2009. ilus
Artigo
em Espanhol
| 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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Tendão do Calcâneo
/
Xantomatose Cerebrotendinosa
Tipo de estudo:
Estudo de etiologia
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2009
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Valparaíso/CL
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