DOI: 10.36347/sjmcr.2024.v12i02.002

Pages: 133-136

Among the most common constitutional overload enzymopathies, Gaucher disease is a rare constitutional overload disease and often caused by lysosomal enzyme deficiencies in pediatric population more than adults. The cause of Gaucher disease is a deficiency of glucocerebrosidase resulting in an accumulation of glucocerebroside) in macrophages. These abundant macrophages are present in the lymphoid tissues (spleen, liver, marrow, lymph node), some of which have a characteristic morphological appearance (Gaucher cell) allowing the diagnosis to be suggested during myelogram. Reporting two cases of adult patients in whom the demonstration of overload cells in the myelogram allowed us to direct towards the diagnosis of Gaucher disease.