Blood Smear as A Clue to The Diagnosis of GM1 - Gangliosidosis

GM1 gangliosidosis is a rare hereditary disease from the group of lysosomal accumulation diseases, caused by deficiency of the enzyme Β-galactosidase and leading to abnormal accumulation of metabolic by-products. GM1 – gangliosidosis is accompanied by a number of cytological disorders: multiple vacuoles in lymphocytes; faintly stained, irregularly distributed granules and cytoplasmic vacuolation in eosinophils 1-3. The article presents a clinical case of GM-1 – gangliosidosis type 1 of a 5-month-old child, which became possible to assume during the study of peripheral blood smears.