2021-08-30 15:47:50
Axial T2 and coronal T1 MRI images in a patient with
Gaucher disease shows multiple lesions within the spleen, splenomegaly, and enlargement of a splenule (arrowhead).
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase.
Affected patients may have splenomegaly, abnormal bone marrow, and bone infarcts. Focal splenic lesions can occur in up to one third of adult patients with Gaucher disease, type I.
There are clinical significance is unknown. However, focal splenic lesions are associated with more severe manifestations including avascular osteonecrosis, thrombocytopenia, and splenomegaly.
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