LAUSR

In July 2019, a 68-year-old man was admitted to our institution for isolated thrombocytopenia (platelet count, 73 × 109/L) without anemia or abnormalities in white blood cells. The patient also referred bone pain. Standard exams were performed to determine the cause of thrombocytopenia. A complete abdomen ultrasound revealed hepatosplenomegaly in absence of hepatic disease. Mutational analysis of JAK2V617F was made, and no mutation was detected. Finally, a bone marrow aspiration was made, which unexpectedly revealed Gaucher cells (Figs. 1, 2). Gaucher-like or pseudo-Gaucher cells without pathologic significance may be observed in bone marrow aspirate in different hematologic diseases, so we performed a dried blood spot (DBS) to evaluate the activity of lysosomal enzyme β-glucocerebrosidase and found a pathogenetic mutation of GBA [c.1226A>G p.(Asn409Ser)]. Gaucher’s disease is a rare autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA, which encodes the lysosomal protein glucocerebrosidase, and results in the accumulation of glucosylceramide and glucosylsphingosine in phagocytes. Affected cells can reach considerable size (up to 100 μm in diameter) with a small, not very compact, central or slightly eccentric nucleous with benign morphologic aspects (Fig. 1). These cells are called Gaucher cells, after Philippe Gaucher, who described them for the first time in 1882. Multiple nuclei are sometimes observed. On May–Grunwald Giemsa staining, the cytoplasm is typically large and has a gray-blue color with a fibrillar structure (consisting of glucocerebroside) giving the appearance of “crumpled tissue paper” or an “onion bulb” (Fig. 2).