Gaucher's disease is a sphingolipidosis that results from insufficient production of the enzyme glucocerebrosidase. The excess glucocerebroside preferentially accumulates in macrophages. Type 1 is the most common form of Gaucher's disease and can present in late teens or in adults with visceral, hematological and skeletal manifestations.

On long term enzyme replacement, the larger splenic lesion has diminished in size and the spleen length has reduced from 20 cms to 15.5 cms. This supports the diagnosis of gaucheroma for the largest splenic lesion. This tumor-like mass is due to a focal collection of Gaucher cells.