Gaucher Disease is an autosomal recessive lysosomal storage disease that is caused by a deficiency of glucocerebrosidase.
This leads to an accumulation of the sphingolipid glucocerebroside in various cells and organs. Notably, glucocerebroside in the liver and spleen leads to hepatosplenomegaly, which distinguishes Gaucher disease from some of the other lysosomal storage diseases. Accumulation in the bone marrow may also lead to pancytopenia, osteoporosis, and aseptic necrosis. Build-up in macrophages leads to the appearance of Gaucher cells under the microscope, which are characterized by tissue-paper cytoplasm and dark nuclei.
Find Gaucher Disease and more Lysosomal Storage Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.