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

Gaucher disease is an autosomal recessive genetic caused by a deficiency in lysosomal enzyme, beta glucocerebrosidase. This characterized deposits of glucosylceramide liver, spleen and bone marrow cells. The presentation MG very heterogeneous, ranging from the asymptomatic form to lethal form. Neurological forms (types 2 3) are present only 5% patients with less frequent than non-neurological (type 1). formal diagnosis established measuring activity glucocerebrosidase circulating leukocytes. accumulation macrophages gives them characteristic morphological appearance they called "Gaucher cells" thus making it possible evoke diagnosis. We describe through this observation practical side hematological cytology diagnostic orientation rare often misunderstood pathology.