Síndrome de Hurler Scheie, a propósito de un caso
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Rev. bol. ped.
Abstract
Presentamos el caso de un niño de ocho años de edad, que llega al Hospital Daniel Bracamonte de la ciudad de Potosí procedente de área rural consultando por presentar deterioro del sentido de la vista en forma progresiva, al igual que otros síntomas concomitantes. Realizado el examen físico y exámenes complementarios, se llega a la conclusión diagnóstica de Síndrome de Hurler Scheie, que es una mucoplisacaridosis rara en nuestro medio. Aprovechamos el caso para hacer una descripción de esta enfermedad.
We present the case of an eight-year-old boy, admitted into "Daniel Bracamonte Hospital" in the city of Potosi. He carne from a rural area and showed a progressive impairment of visión, as well as other related symptoms. Once the physical and complementary tests were performed, it was concluded that he suffered from Hurler Scheie's syndrome, which is a mucopolysaccharidosis, rare in our environment. We took this case to describe the disease.
We present the case of an eight-year-old boy, admitted into "Daniel Bracamonte Hospital" in the city of Potosi. He carne from a rural area and showed a progressive impairment of visión, as well as other related symptoms. Once the physical and complementary tests were performed, it was concluded that he suffered from Hurler Scheie's syndrome, which is a mucopolysaccharidosis, rare in our environment. We took this case to describe the disease.
Description
Vol. 50, No. 1