title: [Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers].
abstract: We describe two brothers affected by MPS type IS (Scheie syndrome). Mucopolysaccharidosis type I consists of three clinical entities of varying severity, all due to alfalevo-iduronidase enzyme deficiency. The MPS IS in characterized by joint stiffness, aortic valve disease and corneal clouding. The intellect is normal. All these findings are present on our brothers; furthermore retinal degeneration also occurred. It could give in the future attendant deterioration of vision.
authors.affiliation: Divisione Pediatrica, Ospedale Vizzolo Predabissi di Melegnano, MI, Italia.
authors.forename: G
authors.initials: G
authors.lastname: Bonora
authors.forename: D
authors.initials: D
authors.lastname: Frattini
authors.forename: M
authors.initials: M
authors.lastname: Nedbal
authors.forename: C
authors.initials: C
authors.lastname: Massironi
authors.forename: L
authors.initials: L
authors.lastname: Perletti
mesh_terms: D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007068:Iduronidase / Q000097:blood; D008297:Male; D008059:Mucopolysaccharidosis I / Q000175:diagnosis* / Q000378:metabolism
chemical_list: D006025:Glycosaminoglycans; D007068:Iduronidase
vernacular_title: Mucopolisaccaridosi tipo IS: sindrome di Scheie. Descrizione di due fratelli.