title: [Mucopolysaccharidosis type I, Hurler-Scheie phenotype with ocular involvement. Clinical and ultrastructural study].
abstract: 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.
authors.affiliation: Service d'Ophtalmologie, Hôpital Robert Ballanger, Aulnaysous-Bois.
authors.forename: B
authors.initials: B
authors.lastname: Girard
authors.forename: T
authors.initials: T
authors.lastname: Hoang-Xuan
authors.forename: F
authors.initials: F
authors.lastname: D'Hermies
authors.forename: M
authors.initials: M
authors.lastname: Savoldelli
authors.forename: M
authors.initials: M
authors.lastname: Bennouna
authors.forename: L
authors.initials: L
authors.lastname: Poenaru
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: Y
authors.initials: Y
authors.lastname: Pouliquen
mesh_terms: D003228:Conjunctiva / Q000648:ultrastructure*; D003315:Cornea / Q000648:ultrastructure*; D003318:Corneal Opacity / Q000209:etiology*; D005901:Glaucoma / Q000209:etiology*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008059:Mucopolysaccharidosis I / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D010641:Phenotype
vernacular_title: Mucopolysaccharidose de type I, phénotype Hurler-Scheie avec atteinte oculaire. Etude clinique et ultrastructurale.