Snapshot A young boy presents with chronic fatigue and hepatosplenomegaly. Bone marrow aspirate histology is shown at the right. Introduction Autosomal recessive deficiency in B-glucocerebrosidase Leads to accumulation of sphingolipids liver spleen bone marrow Most common cause of lysosomal enzyme deficiency in Ashkenazi Jews Presentation Symptoms chronic fatigue Physical exam hepatosplenomegaly bony abnormalities - avascular necrosis anemia (and sometimes pancytopenia) STUDIES Labs Diagnosis can be confirmed by measurement of acid beta-glucosidase activity in peripheral blood leukocytes Histology bone marrow aspirate shows a giant binucleate storage cell filled with glucocerebrosides which accumulate because of an hereditary deficiency of Beta-glucocerebrosidas Treatment Enzyme substitute Imiglucerase (Cerezyme) PROGNOSIS Fatal in enzyme substitute not given