technetium-tc-99m-sulfur-colloid and Gaucher-Disease

Gaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme beta-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods.

Topics: Bone Diseases; Bone Marrow; Gaucher Disease; Humans; Magnetic Resonance Imaging; Radiopharmaceuticals; Technetium Tc 99m Sestamibi; Technetium Tc 99m Sulfur Colloid; Tomography, Emission-Computed, Single-Photon

The purpose of this study was to define the scintigraphic pattern of marrow replacement and changes in reticuloendothelial activity after enzyme replacement therapy in patients with Gaucher disease.. Forty patients underwent baseline whole-body imaging with 99mTc-sulfur colloid and evaluation of liver and spleen volume with CT or magnetic resonance imaging. Thirty-seven of the 40 patients were treated with enzyme replacement. Therapeutic responses of central and peripheral bone marrow and the changes in pulmonary uptake of 99mTc-sulfur colloid were assessed visually at 1-4 yr after the start of therapy. Changes in liver and spleen volumes were analyzed quantitatively. The initial pattern of marrow involvement was correlated with disease severity (based on baseline blood counts and liver and spleen volumes).. Baseline studies revealed that 38 of 40 (95%) and 28 of 40 (70%) of the patients in this study had abnormal peripheral and central marrow activity, respectively. Twenty of 24 evaluable patients (83.3%) on therapy showed regression of peripheral bone marrow activity to a more proximal location in the lower extremities, increased ratio of pelvic/proximal femoral activity to distal activity or both. Fourteen of 19 treated patients (73.7%) with abnormal initial central marrow activity showed detectable improvement in central bone marrow activity as a result of therapy. In patients with initial lung uptake of 99mTc-sulfur colloid, 91% showed complete resolution of the uptake after therapy. These changes in colloid uptake and distribution were associated with significant reductions in liver and spleen volumes and improvements in blood counts.. Most patients with Gaucher disease demonstrate increased central bone marrow activity and regression of activity in peripheral bone marrow with enzyme replacement therapy. Additionally, the abnormal phagocytic pulmonary activity observed before therapy in many of the patients resolves.

Topics: Adult; Bone Marrow; Female; Gaucher Disease; Glucosylceramidase; Humans; Liver; Lung; Male; Mononuclear Phagocyte System; Radionuclide Imaging; Spleen; Technetium Tc 99m Sulfur Colloid

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.

Topics: Bone Marrow; Child; Female; Femur; Gaucher Disease; Glucosylceramidase; Humans; Radionuclide Imaging; Technetium Tc 99m Sulfur Colloid; Tomography, X-Ray Computed

A series of plain radiographs, bone scans, bone marrow scans, and MRIs is reported in a patient with Gaucher disease type I, in whom two episodes of acute bone crisis developed during a 6-year period of follow-up. Acute bone crisis and global indolent bone marrow displacement could both be assessed by bone marrow scintigraphy, whereas MRI could better clarify the corti-comedullary alteration after bone infarction. Thus, MRI and bone marrow scintigraphy could be used as complementary imaging methods in the management of patients with Gaucher disease.

Topics: Acute Disease; Adult; Biopsy; Bone and Bones; Bone Diseases; Bone Marrow; Diagnostic Imaging; Follow-Up Studies; Gaucher Disease; Humans; Infarction; Magnetic Resonance Imaging; Male; Pain; Radionuclide Imaging; Radiopharmaceuticals; Technetium Tc 99m Medronate; Technetium Tc 99m Sulfur Colloid; Tomography, X-Ray Computed

Enzyme replacement has been under consideration as a therapeutic strategy for patients with Gaucher disease for more than two decades. Previous studies indicated that single injections of purified glucocerebrosidase reduced the amount of storage material in the liver. It was important to determine whether administration of exogenous enzyme on a regular basis would be of clinical benefit. We report here that weekly i.v. infusions of a macrophage-targeted preparation of human placental glucocerebrosidase in a child with type 1 Gaucher disease increased hemoglobin from 6.9 +/- 0.8 g/dl (+/- 1 SD) to 10.2 +/- 0.4 g/dl (+/- 1 SD) over a 20-week period. The platelet count also increased from a pretreatment value of 30,000 +/- 7000/mm3 (+/- 1 SD) to 54,000 +/- 11,000/mm3 (+/- 1 SD). Phagocytic activity in the spleen decreased during the period of enzyme administration, and there was radiographic evidence of skeletal improvement. These observations document objective clinical responses to enzyme supplementation in a patient with a sphingolipid storage disorder.

Topics: Bone and Bones; Child, Preschool; Female; Gaucher Disease; Glucosidases; Glucosylceramidase; Humans; Infusions, Intravenous; Liver; Male; Placenta; Platelet Count; Pregnancy; Radiography; Radionuclide Imaging; Spleen; Technetium Tc 99m Sulfur Colloid

The effectiveness of CT and technetium-99m sulfur colloid (99mTc SC) bone-marrow scans in determining the extent and severity of skeletal involvement in 23 patients with type 1 Gaucher's disease was compared with the effectiveness of conventional radiographic techniques and technetium-99m methylene diphosphonate (99mTc MDP) bone scintigrams. Density measurements obtained by CT proved sensitive in differentiating normal marrow (-50 to -120 H). Scintigrams with the sulfur colloid nuclide demonstrated three distinct patterns of uptake: peripheral expansion of normal marrow (profile B), greater marrow expansion with patchy areas lacking uptake (profile C), and greater loss of uptake with retention of the nuclide in other reticuloendothelial organs and circulation (profile D). CT scans provided greater sensitivity in resolving the extent of marrow involvement in affected areas, while the 99mTc SC scintigrams were more effective in overall assessment of the severity of bone-marrow involvement. Both conventional radiographic techniques and 99mTc MDP bone scans were useful primarily as screening procedures or for evaluating specific involved areas. 99mTc MDP scans were useful in evaluating regional defects (i.e., ischemic necrosis) in certain cases, but no consistent patterns were observed. CT and 99mTc SC scans are useful for determining the extent and severity of Gaucher's disease involvement of bone marrow.

Topics: Bone Diseases; Female; Gaucher Disease; Humans; Male; Technetium Tc 99m Medronate; Technetium Tc 99m Sulfur Colloid; Tomography, X-Ray Computed

Topics: Adult; Gaucher Disease; Humans; Liver; Male; Methods; Radionuclide Imaging; Spleen; Splenectomy; Sulfur; Technetium; Technetium Tc 99m Sulfur Colloid