Gaucher’s Disease: A Rare Case, Diagnosed By Fine Needle Aspiration Cytology

Fine Needle Aspiration (FNA) is a simple, inexpensive and innocuous diagnostic tool. It is increasingly accepted in daily medical practice. We report a case of Gaucher's disease diagnosed by FNA of enlarged spleen in a seven-year-old male presented with complaints of fever, on and off irregular bowel habits, abdominal distension and asymmetric gaze for four years and decreased vision in night for last one year. The diagnosis was based on the finding of large, macrophage like cells with abundant, pale, fibrillary cytoplasm and small nuclei. The patient had no family history of Gaucher's disease, and the diagnosis was not suspected clinically.