Splenic Pathology: Gaucher's disease of the Spleen |
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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. |