SciELO - Scientific Electronic Library Online

 
vol.110 issue5Transvaginal penetrating fetal head injuryParsonage-Turner syndrome in childhood and adolescence: Case report author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google

Bookmark


Archivos argentinos de pediatría

Print version ISSN 0325-0075

Abstract

AMORIN, Milagros; CARLIN, Andrea  and  PROTZEL, Ana. Mucopolysaccharidosis I, Hurler syndrome: A case report. Arch. argent. pediatr. [online]. 2012, vol.110, n.5, pp. e103-e106. ISSN 0325-0075.

Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-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 a-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.

Keywords : Mucopolysaccharidosis; Hurler syndrome; MPS 1; Hurler; Genetic disorder; Enzymatic replacement therapy; ERT.

        · abstract in Spanish     · text in Spanish     · pdf in Spanish