GM1 - gangliosidosis, type 1 in the practice of a clinical laboratory diagnostics doctor

GM1- gangliosidosis is a rare hereditary disease from the group of lysosomal storage diseases, caused by a deficiency of the enzyme beta-galactosidase and leading to an abnormal accumulation of metabolic byproducts. GM1 - gangliosidosis is accompanied by a number of cytological disorders: multiple vacuoles in lymphocytes; weakly stained, unevenly distributed granules and cytoplasmic vacuolization in eosinophils. The article presents a clinical case of GM-1 - gangliosidosis type 1 in a 5-month-old child, which became possible to assume from the study of bone marrow (BM) and peripheral blood smears. Detection of vacuolated lymphocytes and abnormal eosinophils in the study of leukocyte formula may have important diagnostic value in patients with metabolic disorders.