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GAUCHER'S CELLS IN BONE MARROW ASPIRATE SMEARS

GAUCHER'S CELLS IN BONE MARROW ASPIRATE SMEARS
#00062962
Author: DR RUPALI PARIKH, BHATIA HOSPITAL, MUMBAI
Category: Laboratory Hematology > Basic cell morphology > Morphologic variants of white blood cells > Histiocyte/macrophage – storage disease
Published Date: 03/09/2020

A 6 year old boy presented with massive splenomegaly 15 cm below the left costal margin with history of anemia since the age of 8 months. The liver was palpable to approximately 1 cm below the right costal margin. Abdominal ultrasound confirmed marked splenomegaly, and hepatomegaly. Complete blood counts revealed pancytopenia. WBC count was: 2.7 x 10^9/L, Hemoglobin was : 10.0 g/dL, PLT: 98 x 10^9/L. A bone marrow biopsy was performed due to the patient's persistent pancytopenia and splenomegaly. The bone marrow aspirate showed normal erythroid and myeloid maturation . Megakaryocytes were present in normal numbers. Individual as well as large clusters and aggregates of macrophages with eccentric nuclei, abundant blue-gray cytoplasm and wrinkled tissue paper appearance are seen.

Enzymatic quantification of β-glucocerebrosidase was performed  which confirmed it's deficit. 

Gaucher’s Disease ( GD) is usually diagnosed by the demonstration of characteristic “Gaucher cells” in the bone marrow. Pseudo-Gaucher cells have occasionally been described in various hematologic malignancies including multiple myeloma, myelodysplastic syndrome, lymphomas, chronic myelogenous leukemia and thalassemia.
Therefore, detection of reduced or absent β-glucosidase (glucocerebrosidase) enzyme activity is the gold standard
for the diagnosis of all the variants of GD.