Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement.

Author(s): Hermann G, Pastores GM, Abdelwahab IF, Lorberboym AM

Affiliation(s): Radiology Department, Mount Sinai Medical Center, New York, NY 10029, USA.

Publication date & source: 1997-12, Skeletal Radiol., 26(12):687-96.

Publication type: Review

The clinical, pathological and radiological manifestations of type 1 Gaucher disease and the role of imaging techniques such as CT, MRI and sulfur-colloid scintigraphy in the management of these patients is discussed. MRI appears to be the most valuable imaging technique for evaluating bone marrow involvement and detecting disease activity. MRI is also useful in assessing therapeutic responses to enzyme replacement therapy.