title: Quantitative imaging of Gaucher disease.
abstract: Twenty-three patients with type 1 Gaucher disease were evaluated with a battery of quantitative imaging techniques. Plain radiographs were used to measure cortical thickness and Erlenmeyer flask deformity. Xenon-133 uptake was measured in scans of the lower extremities. Dual-energy quantitative computed tomography was used for calculation of trabecular bone and bone marrow fat content in the spine and long bones. Magnetic resonance (MR) imaging was performed to evaluate disease extent and three-dimensional splenic volume. MR images were also used to provide quantitative measurements of each vertebral fat fraction. Each imaging modality was correlated with the others as well as with the clinical history of skeletal complications and the hematocrit and acid phosphatase activity. There was a strong relationship between splenic volume and disease severity as measured clinically and with laboratory testing. The spinal fat fraction also correlated with these measures of disease severity and with the femoral fat fraction and xenon uptake. No measurement allowed discrimination of patients with from those without skeletal complications.
authors.affiliation: Department of Radiology, Massachusetts General Hospital, Boston 02114.
authors.forename: D I
authors.initials: DI
authors.lastname: Rosenthal
authors.forename: N W
authors.initials: NW
authors.lastname: Barton
authors.forename: K A
authors.initials: KA
authors.lastname: McKusick
authors.forename: B R
authors.initials: BR
authors.lastname: Rosen
authors.forename: S C
authors.initials: SC
authors.lastname: Hill
authors.forename: F P
authors.initials: FP
authors.lastname: Castronovo
authors.forename: R O
authors.initials: RO
authors.lastname: Brady
authors.forename: S H
authors.initials: SH
authors.lastname: Doppelt
authors.forename: H J
authors.initials: HJ
authors.lastname: Mankin
mesh_terms: D000293:Adolescent; D000328:Adult; D015519:Bone Density; D001853:Bone Marrow / Q000000981:diagnostic imaging / Q000473:pathology; D001842:Bone and Bones / Q000000981:diagnostic imaging* / Q000473:pathology; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis*; D006801:Humans; D008099:Liver / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D011877:Radionuclide Imaging; D013154:Spleen / Q000473:pathology; D014057:Tomography, X-Ray Computed