GM1 - gangliosidosis, type 1 in the practice of a clinical laboratory diagnostics doctor
https://doi.org/10.31146/2949-4664-apps-2-3-40-44
Abstract
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.
About the Authors
T. V. Konyukhova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology; N.I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
A. I. Mandzhieva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
E. V. Trukhina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology
Russian Federation
Russian Federation
L. B. Guruleva
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
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Review
For citations:
Konyukhova T.V., Mandzhieva A.I., Trukhina E.V., Guruleva L.B. GM1 - gangliosidosis, type 1 in the practice of a clinical laboratory diagnostics doctor. Archives of Pediatrics and Pediatric Surgery. 2024;2(3):40-44. (In Russ.) https://doi.org/10.31146/2949-4664-apps-2-3-40-44
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