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.
Similar content being viewed by others
References
Aula, P., Rapola, J., Andersson, L. C.: Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders. Virchows Arch. Abt. B, Cell Path. 18, 263–271 (1975)
Beuren, A. J., Apitz, J., Stoermer, J.: Berich über zwei Geschwisterkinder mit Glykogenspeicherkrankheit des Herzens und ein drittes Geschwisterkind mit Ventrikelseptumdefekt. Z. Kreislauf-Forschg. 51, 708–716 (1962)
Baudhuin, P., Hers, H. G., Loeb, H.: An electron microscopic and biochemical study of type II glycogenosis. Lab. Invest. 13, 1139–1152 (1964)
Borrone, C., Gatti, R., Trias, X., Durand, P.: Fucosidosis: Clinical, biochemical, immunologic, and genetic studies in two new cases. J. Pediat. 84, 727–730 (1974)
Durand, P., Borrone, C.: Fucosidosis and mannosidosis, glycoprotein and glycosylceramide storage diseases. Helv. Paediat. Acta 26, 19–27 (1971)
Freitag, F., Küchemann, K., Blümcke, S., Spranger, J.: Hepatic ultrastructure in fucosidosis. Virchows Arch., Abt. B, Zellpath. 7, 99–113 (1971)
Hers, H. G.: Israel J. Med. Sci. 1, 6 (1965), quoted from: Hers, H. G., de Barsy, T.: Type II glycogenosis. In: Lysosomes and storage diseases (H. G. Hers, E. van Hoof, eds.). New York-London: Academic Press 1973
Hers, H. G., van Hoof, F.: Glycogen-storage disease: Type II and Type VI Glycogenosis. In: Carbohydrate metabolism and its disorders (F. Dickens, P. J. Randler, W. J. Whelan, eds.), Vol. 2, p. 151. New York: Academic Press 1968
Hers, H. G.: Type II glycogenosis. In: Lysosomes and storage diseases (H. G. Hers, E. van Hoof, eds.). New York-London: Academic Press 1973
Koster, J. F., Slee, R. G., Hülsmann, W. C.: The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease). Clin. Chim. Acta 51, 319–324 (1974)
Matsuda, I., Arashima, Sh., Anakura, M., Ege, A., Hayata, I.: Fucosidosis. Tohoku J. exp. Med. 109, 41–48 (1973)
O'Brien, J. S.: Generalized gangliosidosis. J. Pediat. 75, 167–186 (1969)
O'Brien, J. S.: Tay-Sachs' disease and juvenile GM2 gangliosidosis. In: Lysosomes and storage diseases (H. G. Hers, E. van Hoof, eds.). New York-London: Academic Press 1973
Pralle, H., Schroeder, R., Löffler, H.: Plasmazelleinschlüsse bei Mangel an saurer Maltase. Klin. Wschr. 52, 653–654 (1974)
Rapola, J., Autio, S., Aula, P., Nanto, V.: Lymphocytic inclusions in I-cell disease. J. Pediat. 85, 88–90 (1974)
Schaub, J., Osang, M., Bassewitz, D. B. v., Grote, W., Terinde, R., Lombeck, I., Bremer, H. J.: Pränatale Diagnose einer Glykogenose Typ II (Pompe) mit nachfolgener Interruptio. Dtsch. med. Wschr. 99, 2219–2222 (1974)
Spranger, J. W., Wiedemann, H. R.: The genetic mucolipidoses. Neuropädiatrie 2, 3–16 (1970)
Watanabe, I., Donahue, S., Hogatt, N.: Method for electron microscopic studies on circulating human leucocytes and observations on their fine structure. J. Ultrastr. Res. 20, 366–382 (1967)
Zeman, W., Siakatos, A. N.: The neuronal ceroid-lipofuscinoses. In: Lysosomes and storage diseases (H. G. Hers, E. van Hoof, eds.). New York-London: Academic Press 1973)
Author information
Authors and Affiliations
Additional information
With support of the “Landesamt für Forschung des Ministeriums für Wissenschaft und Forschung des Landes Nordrhein-Westfalen”
Rights and permissions
About this article
Cite this article
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
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00465559