Mucopolisacaridosis de tipo I Hurler: Informe de un caso

Milagros Amorín, Andrea Carlin, Ana Prötzel

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

2 Citas (Scopus)

Resumen

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme α-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme α-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth. After enzyme replacement therapy the patient has shown improvement of visceral symptoms, but the neurological damage continuous in progress.

Título traducido de la contribuciónMucopolysaccharidosis I, Hurler syndrome: A case report
Idioma originalEspañol
Páginas (desde-hasta)e103-e106
PublicaciónArchivos Argentinos de Pediatria
Volumen110
N.º5
DOI
EstadoPublicada - oct 2012
Publicado de forma externa

Palabras clave

  • Enzymatic replacement therapy
  • ERT
  • Genetic disorder
  • Hurler
  • Hurler syndrome
  • MPS 1
  • Mucopolysaccharidosis

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