Overview Snapshot A 2-month-old boy is brought to the pediatrician by his parents due to feeding difficulties and an “enlarged” abdomen. On physical exam, there is insufficient weight gain and hepatosplenomegaly. On laboratory testing, there is a decrease in high-density lipoprotein (HDL)- cholesterol, elevated triglycerides, and an increase in LDL-cholesterol. Residual acid sphingomyelinase activity in peripheral blood leukocytes is <10% of controls. Introduction Clinical definition login to view 1 more bullet ETIOLOGY Pathophysiology login to view 5 more bullets Genetics login to view 9 more bullets Associated conditions login to view 3 more bullets Epidemiology Incidence login to view 2 more bullets Demographics login to view 5 more bullets Location login to view 2 more bullets Presentation Symptoms login to view 2 more bullets Physical exam login to view 2 more bullets STUDIES Labs login to view 2 more bullets Histology login to view 2 more bullets Treatment Conservative login to view 1 more bullet Complications Splenic rupture In patients with NPD type A, death is likely to occur by age 3 In patients with NPD type B, patients may survive into adulthood Prognosis Natural history of disease login to view 5 more bullets