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

Gaucher's disease type I is the most prevalent lysosomal storage disorder c aused by an autosomal-recessive inherited deficiency:of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysoso mes of macrophages. The storage disorder produces a multisystem disease cha racterized by progressive visceral enlargement and gradual replacement of b one marrow with lipid-laden macrophages. Skeletal disease is a major source of disability in Gaucher's disease. Extraosseous extension of Gaucher cell s is an extremely rare manifestation of skeletal Gaucher's disease. This is a report on the MRI and histopathological findings of an extraosseous Gauc her-cell extension into the midface in a patient with Gaucher's disease.