Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2000-09

AUTHORS

L. W. Poll, J.-A. Koch, S. vom Dahl, E. Loxtermann, M. Sarbia, C. Niederau, D. Häussinger, U. Mödder

ABSTRACT

. Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by progressive visceral enlargement and gradual replacement of bone marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cells is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gaucher-cell extension into the midface in a patient with Gaucher's disease. More... »

PAGES

1660-1663

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s003300000446

DOI

http://dx.doi.org/10.1007/s003300000446

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1023457903

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11044944


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