Linked Life Data

8089412

Source:http://linkedlifedata.com/resource/pubmed/id/8089412

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1994-10-19
pubmed:abstractText
The authors report the case of a 37 year-old male who presented with type I Hurler-Scheie (H-S) mucopolysaccharidosis revealed by ocular complications including bilateral corneal opacification and glaucoma. These complications are identical to those seen in Scheie's mucopolysaccharidosis. The patient underwent a trabeculectomy and a penetrating keratoplasty in both eyes. The corneal storage material was shown on the histological and ultrastructural examination of the buttons. These ocular complications result from excessive tissular storage of acid mucopolysaccharides due to an enzymatic alpha-L-iduronidase deficiency which was proved in our patient. H-S mucopolysaccharidosis is also characterized by dysmorphia and altered intellectual functions like in Hurler's disease in which the prognosis is however. The characteristics of the disease are discussed as well as the different therapeutical strategies which rely on leucocyte injections, skin fibroblast or bone marrow transplantation.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0181-5512
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
286-95
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
[Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study].
pubmed:affiliation
Service d'Ophtalmologie, Hôpital Robert Ballanger, Aulnaysous-Bois.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports