Childhood Onset of Scheie Syndrome, the Attenuated Form of Mucopolysaccharidosis I

DSpace/Manakin Repository

Childhood Onset of Scheie Syndrome, the Attenuated Form of Mucopolysaccharidosis I

Citable link to this page

 

 
Title: Childhood Onset of Scheie Syndrome, the Attenuated Form of Mucopolysaccharidosis I
Author: Thomas, Janet A.; Beck, Michael; Clarke, Joe T. R.; Cox, Gerald Frank

Note: Order does not necessarily reflect citation order of authors.

Citation: Thomas, Janet A., Michael Beck, Joe T. R. Clarke, and Gerald F. Cox. 2010. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. Journal of Inherited Metabolic Disease 33, no. 4: 421-427.
Full Text & Related Files:
Abstract: Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were male, and 88% were Caucasian. Of 25 MPS I-related clinical features, cardiac valve abnormalities, joint contractures, and corneal clouding were each reported by >80% and all three by 53% of patients. Carpal tunnel syndrome, hernia, coarse facial features, and hepatomegaly were each reported by >50% of patients. Age at onset of the clinical features varied widely between individuals, but the median age at onset was 3 years for hernia and between 5 and 12 years for most features, including coarse facial features, hepatomegaly, joint contractures, bone deformities, cardiac valve abnormalities, cognitive impairment, and corneal clouding. Carpal tunnel syndrome, cardiomyopathy, and myelopathy arose more commonly during adolescence or adulthood. Delays up to 47 years intervened between symptom onset and disease diagnosis, and the longest delays were associated with later age at symptom onset and symptom onset before 1980. In summary, Scheie syndrome usually emerges during childhood, and recognition of attenuated MPS I requires awareness of the multisystemic disease manifestations and their diverse presentation. Given the availability of etiologic treatment, prompt diagnosis is important.
Published Version: doi://10.1007/s10545-010-9113-7
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903709/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:4791067
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters