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
Artículo
en Español
| 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:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Tendón Calcáneo
/
Xantomatosis Cerebrotendinosa
Tipo de estudio:
Estudio de etiología
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2009
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Pontificia Universidad Católica de Chile/CL
/
Universidad de Valparaíso/CL
Similares
MEDLINE
...
LILACS
LIS