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

Eur Radiol. 2000;10(10):1660-3. doi: 10.1007/s003300000446.

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.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Bone Marrow / pathology*
  • Diagnosis, Differential
  • Echo-Planar Imaging*
  • Gaucher Disease / diagnosis*
  • Humans
  • Male
  • Mandible
  • Middle Aged
  • Muscle, Skeletal / pathology*