Place of cytology in the diagnosis of Gaucher disease: About a case

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.