الفهرس 
Epidemiology of MPSOnly 14 pages are availabe for public view
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Abstract
Background: The clinical spectrum of mucopolysaccharidosis (MPS) type I is variable and range from the mildest attenuated form (Scheie syndrome) and the severest form (Hurler syndrome). Patients with Scheie syndrome suffer, despite being attenuated, from variable musculoskeletal, ophthalmological, and cardiac symptoms that sometimes delay or hinder reaching a proper diagnosis.
Aim of the case report: To highlight the different presentation of a patient with Scheie syndrome.
Description: We report a 30-year-old girl with Scheie syndrome, the firstborn of first-cousin parents presented at the age of 7 years with arthralgia and limitation of movements of several joints and so misdiagnosed as juvenile rheumatoid arthritis. She also suffered from corneal cloudiness, short stature, and no coarse facial features. Her skeletal survey at that time showed no abnormality as well as her Echocardiography. The diagnosis of MPS was confirmed by low alpha L-iduronidase enzyme activity. She received enzyme replacement therapy (ERT), which was started late and on an irregular basis. Therefore, her disease continued to progress despite regular ERT, especially avascular organs like corneas
Conclusion: Scheie syndrome should be suspected in patients with rheumatoid like symptoms, especially in the presence of other MPS characteristic features like corneal cloudiness. Late start of treatment hinders the patient’s chance of optimum ERT effect.