[Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers].
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.
Bonora
G
G
Divisione Pediatrica, Ospedale Vizzolo Predabissi di Melegnano, MI, Italia.
Frattini
D
D
Nedbal
M
M
Massironi
C
C
Perletti
L
L
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
D006025:Glycosaminoglycans; D007068:Iduronidase
Mucopolisaccaridosi tipo IS: sindrome di Scheie. Descrizione di due fratelli.