ABSTRACT
Gaucher's disease is one of the important storage disorders. It belongs to the lysosomal storage disorders group. There is defective activity of an enzyme named ß-glucosidase which ultimately renders the cell of macrophage lineage loaded with glucocerebrosides. There is multi-organ involvement that manifests as hepatosplenomegaly, variable cytopenias, skeletal disorders, neurological features etc. When serum ß-glucosidase level is below 15% of mean normal activity Gaucher's disease is confirmed. Enzyme replacement is the definitive treatment. Here we report a case of type 1 or non-neuropathic form Gauchers disease presented with feeling of a lump in left upper abdomen and progressive generalized weakness and hepatosplenomegaly. Her complete blood count revealed pancytopenia and bone trephine biopsy showed Gaucher's cells. Diagnosis and management may be delayed as this disease is rare. Clinical and bone marrow examination is the mainstay of diagnosis. So emphasis should be given in this regard.
