[Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers]

Pediatr Med Chir. 1991 Nov-Dec;13(6):631-6.
[Article in Italian]

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.

Publication types

  • Case Reports
  • English Abstract
  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Follow-Up Studies
  • Glycosaminoglycans / urine
  • Humans
  • Iduronidase / blood
  • Male
  • Mucopolysaccharidosis I / diagnosis*
  • Mucopolysaccharidosis I / metabolism

Substances

  • Glycosaminoglycans
  • Iduronidase