Mucopolisacaridosis de tipo I Hurler: Informe de un caso

Translated title of the contribution: Mucopolysaccharidosis I, Hurler syndrome: A case report

Milagros Amorín, Andrea Carlin, Ana Prötzel

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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.

Translated title of the contributionMucopolysaccharidosis I, Hurler syndrome: A case report
Original languageSpanish
Pages (from-to)e103-e106
JournalArchivos Argentinos de Pediatria
Volume110
Issue number5
DOIs
StatePublished - Oct 2012
Externally publishedYes

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