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 login to view 3 more bullets Most common cause of lysosomal enzyme deficiency in Ashkenazi Jews Presentation Symptoms login to view 1 more bullet Physical exam login to view 3 more bullets STUDIES Labs login to view 1 more bullet Histology login to view 2 more bullets Treatment Enzyme substitute Imiglucerase (Cerezyme) PROGNOSIS Fatal in enzyme substitute not given