Place of cytology in the diagnosis of Gaucher disease: About a case
Hematology Laboratory, Avicenne Military Hospital, FMPM Cadi Ayyad University, Marrakech, Morocco.
Case Study
GSC Advanced Research and Reviews, 2022, 11(01), 144–147.
Article DOI: 10.30574/gscarr.2022.11.1.0105
Publication history:
Received on 07 march 2022; revised on 12 April 2022; accepted on 14 April 2022
Abstract:
Gaucher disease is an autosomal recessive genetic disease caused by a deficiency in a lysosomal enzyme, beta glucocerebrosidase. This disease is characterized by deposits of glucosylceramide in liver, spleen and bone marrow cells. The presentation of MG is very heterogeneous, ranging from the asymptomatic form to the lethal form. Neurological forms (types 2 and 3) are present in only 5% of patients with MG and are less frequent than non-neurological forms (type 1). The formal diagnosis is established by measuring the activity of beta glucocerebrosidase in circulating leukocytes. The accumulation of glucosylceramide in macrophages gives them a characteristic morphological appearance and they are called "Gaucher cells" thus making it possible to evoke the diagnosis. We describe through this observation the practical side of hematological cytology in the diagnostic orientation of this rare and often misunderstood pathology.
Keywords:
Gaucher Disease; Splenomegaly; Pancytopenia; Left-Handed Cells; Beta Glucocerebrosidase
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Copyright © 2022 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0
