Related Experiment Videos
[Mucopolysaccharidosis IS: Scheie's syndrome. A report of 2 brothers]
G Bonora1, D Frattini, M Nedbal
1Divisione Pediatrica, Ospedale Vizzolo Predabissi di Melegnano, MI, Italia.
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.
Insights
Two brothers with Mucopolysaccharidosis type I (MPS I), specifically Scheie syndrome, presented with typical symptoms and additional retinal degeneration. This case highlights potential vision deterioration in MPS I patients.
Area of Science:
- Genetics and rare diseases
- Enzyme deficiencies
- Ophthalmology
Background:
- Mucopolysaccharidosis type I (MPS I) encompasses a spectrum of disorders.
- All MPS I subtypes result from alpha-L-iduronidase enzyme deficiency.
- Scheie syndrome (MPS IS) is a milder form of MPS I.