Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance.
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.
Poll
L W
LW
Department of Diagnostic Radiology, Heinrich Heine University Düsseldorf, Germany.
Koch
J A
JA
vom Dahl
S
S
Loxtermann
E
E
Sarbia
M
M
Niederau
C
C
Häussinger
D
D
Mödder
U
U
D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology*; D003937:Diagnosis, Differential; D017352:Echo-Planar Imaging; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008334:Mandible; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*