| Mucopolysaccharidosis type-IS presenting with onset of carpal tunnel syndrome at adolescence. | |
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MedLine Citation:
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PMID: 19955999 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Mucopolysaccharidosis type I (MPS I) results from deficiency of the lysosomal enzyme alpha-L iduronidase. Three subtypes, based on severity of clinical findings, have been described, of which MPS type IS (also called Scheie syndrome) is the mildest form. A woman (age, 30 years) and her little brother (age, 21 years) presented to our clinic complaining of atrophy of the thenar muscles, numbness in both hands, and contractures in the finger joints. Electrophysiologic examination showed severe carpal tunnel syndrome for both patients. Findings of cardiac and ocular involvements and decreased level of alpha-L iduronidase confirmed the diagnosis of Scheie syndrome. Enzyme replacement therapy was initiated for the further prevention of musculoskeletal and other organ complications. Delayed diagnosis of MPS type-IS and the musculoskeletal findings are discussed in these 2 familial patients. |
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Authors:
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Cengiz Bahadir; Duygu Kurtulus; Ercan Cihandide |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases Volume: 15 ISSN: 1536-7355 ISO Abbreviation: J Clin Rheumatol Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2009-12-03 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9518034 Medline TA: J Clin Rheumatol Country: United States |
Other Details:
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Languages: eng Pagination: 402-4 Citation Subset: IM |
Affiliation:
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Department of Physical Medicine and Rehabilitation, Haydarpasa Numune Training and Research Hospital, Istanbul, Turkey. cengizmd@gmail.com |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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