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Everything you need to know about Computed Tomography (CT) & CT Scanning

MDCT of the Spleen:  Gaucher's Disease


Gaucher's disease results from a lack of glucerebrosidase producing accumulation of ceramide in cells of the reticular endothelial system (RES), particularly involving the bone marrow, liver, spleen and lymph nodes. There are three subtypes of Gaucher's disease, varying widely in severity. Ninety-nine percent of individuals have subtype I. Clinical symptoms appear from early childhood to late adulthood.

The majority of symptomatic patients will present during adolescence. Those displaying symptoms before the age of 10 y/o tend to have a more severe and progressive form of the disease. The accumulation of Gaucher cells leads to clinical symptoms of anemia, bone pain, and hepatic dysfunction and develop easy bruising, lethargy, and hepatosplenomegaly.

Hepatosplenomegaly is readily visualized on CT and results from diffuse infiltration of these organs with ceramide. The ceramide deposition can also produce focal low density masses on contrast enhanced CT due to accumulation of gaucher cells. Masses can also appear as a result of focal infarction from relative regions of ischemia in areas of infiltration. These masses simulate a variety of benign and malignant tumors of the spleen. Ancillary radiographic findings that may favor Gaucher's disease as the etiology of the masses over other tumors include Erlenmeyer flask deformity of the femurs, aseptic necrosis of the femoral heads, generalized osteopenia, or multiple diffuse lytic lesions of osseous structures.




© 1999-2021 Elliot K. Fishman, MD, FACR. All rights reserved.