title: Vacuolated lymphocytes in type II glycogenosis--a diagnostic approach?
abstract: Using electron microscopy, glycogen-filled lysosomes were found in peripheral lymphocytes in 5 cases of the infantile form of glycogenosis type II. In two infants whose blood smears were available, the ultrastructural demonstration of this pathognomonic storage corresponded to well-delineated vacuoles detected by routine light microscopy. Detection of such vacuoles in peripheral lymphocytes by light microscopy and demonstration of glycogen-filled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.
mesh_terms: D005260:Female; D006003:Glycogen; D006008:Glycogen Storage Disease / Q000473:pathology*; D006009:Glycogen Storage Disease Type II / Q000097:blood / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000473:pathology*; D008247:Lysosomes; D008297:Male; D008854:Microscopy, Electron; D009940:Organoids; D014617:Vacuoles
chemical_list: D006003:Glycogen
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