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Revista de la Sociedad Boliviana de Pediatría
versão On-line ISSN 1024-0675
Resumo
BARRIGA OROPEZA, Jorge; MURILLO SANCHEZ, Consuelo; AGREDA GUERRERO, Julio e ANDIA ALACORIA, Omar. Hurler Schie syndrome, a case report. Rev. bol. ped. [online]. 2011, vol.50, n.1, pp.10-12. ISSN 1024-0675.
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.
Palavras-chave : Hurler Scheie Syndrome; mucopolysaccharidosis.