title: Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy.
abstract: A 9-year-old patient presented with an acute onset of pain of the right femur showing destructive changes with periosteal elevation mimicking osteomyelitis. Technetium-99m sulfur colloid (99mTc SC) marrow scan revealed lack of uptake in the right femoral head and the entire shaft of the right femur. Eight months following enzyme replacement therapy, radiography showed almost complete reconstitution of the femoral shaft, and 99mTc SC marrow scan uptake returned to normal.
authors.affiliation: Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029-6574, USA.
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
authors.forename: G
authors.initials: G
authors.lastname: Hermann
authors.forename: K I
authors.initials: KI
authors.lastname: Norton
authors.forename: M
authors.initials: M
authors.lastname: Lorberboym
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D001853:Bone Marrow / Q000000981:diagnostic imaging; D002648:Child; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging*; D005776:Gaucher Disease / Q000000981:diagnostic imaging* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D011877:Radionuclide Imaging; D013671:Technetium Tc 99m Sulfur Colloid; D014057:Tomography, X-Ray Computed
chemical_list: C070292:alglucerase; D013671:Technetium Tc 99m Sulfur Colloid; D005962:Glucosylceramidase