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 glycogenfilled lysosomes by electron microscopy could be a simple and harmless tool for diagnosing the classical form of type II glycogenosis.
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With support of the “Landesamt für Forschung des Ministeriums für Wissenschaft und Forschung des Landes Nordrhein-Westfalen”
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Bassewitz, D.B.v., Bremer, H.J., Bourgeois, M. et al. Vacuolated lymphocytes in type II glycogenosis —A diagnostic approach?. Eur J Pediatr 127, 1–7 (1977). https://doi.org/10.1007/BF00465559
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DOI: https://doi.org/10.1007/BF00465559