Vacuolated lymphocytes signifying a metabolic disorder in an infant with developmental delay

Abstract

Key Clinical MessageMetabolic disorders sometimes cause accumulation of metabolic byproducts which are manifested as cytoplasmic vacuoles in lymphocytes. We report the case of an infant with final diagnosis of GM1 gangliosidosis who initially presented with developmental delay and peripheral blood vacuolated lymphocytes. Blood film review is recommended in children suspicious for metabolic disorders.

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

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GM1 gangliosidosis is a rare hereditary disease from the group of lysosomal accumulation diseases, caused by deficiency of the enzyme ß-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][2][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.

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Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis

“…It is caused by mutation of galactosidase beta 1 (GLB1) gene encoding the enzyme beta-galactosidase. The disease has a wide range of clinical presentation like coarse facies, hypertrophic gums, cherry red spot in macula, psychomotor delay and visceromegaly [1,2].…”