Abstract: Introduction: The search for vacuolated lymphocytes should be one of the primary investigations for lysosomal disorders. They are best seen in a blood smear that is done at the patient's bedside and may go unrecognized when blood from an ethylene diamine tetra acetate (EDTA) tube is used for the smear following transport to the laboratory. Study design and results: To present the blood smears of different lysosomal disorders (mucopolysaccharidoses type I, Gaucher disease, Wolman disease, galactosialidosis and Niemann-Pick type C), that could be significant in the initial orientation of a lysosomal disorder after an initial clinical suspicion. In some disorders (e.g., in Niemann-Pick, Wolman disease), storage in the lymphocytes is small and discrete and thus is only recognized by experienced examiners. Although no storage can be demonstrated in lymphocytes in mucopolysaccharidoses, coarse metachromatic granules (Alder-Reilly granules) may be found in polymorphonuclear and other leukocytes; they are particularly prominent in Type I (Hurler disease). These may be visualized well in histocytes of the bone marrow. These patients could present with non-specific neurological, systemic or skeletal symptoms as with developmental delay. Coarse features could not appear until adulthood. The early findings are sufficiently nonspecific so that, unlike typical storage diseases, vacuolated lymphocytes may be the only real clue to the diagnosis. Comments: Examination of blood smears for vacuolated lymphocytes by an experienced hematologist for typical storage cells often provides the first substantive diagnosis of a lysosomal disease, including disorders of complex lipid catabolism and the mucopolysaccharidoses. Mucolipidoses are also detectible in this way.
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