[Mucopolysaccharidosis I, Hurler syndrome: a case report].

Abstract

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.

• Authors: Milagros Amorín, Andrea Carlin, Ana Prötzel
• Journal: Archivos argentinos de pediatria (Arch Argent Pediatr) Vol. 110 Issue 5 Pg. e103-6 (Oct 2012) ISSN: 1668-3501 [Electronic] Argentina
• Vernacular Title: Mucopolisacaridosis de tipo I Hurler: informe de un caso.
• PMID: 23070190 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Child
• Enzyme Replacement Therapy
• Humans
• Male
• Mucopolysaccharidosis I (diagnosis, drug therapy)
• Phenotype