Summary
A 7 year-old boy suffering since early infancy from muscular weakness with diffuse hypotrophy and hypotonia is described. There was a remarkable intellectual retardation, but not hepato or cardiomegaly.
A muscle biopsy revealed large quantities of glycogen stored inside the muscular fibres; electron-microscopic investigations indicated that glycogen was lying free between the myofilaments and was also stored in membrane-bound vescicles, possibly lysosomes. Biochemical studies showed the absence of acid maltase in muscular tissue.
The case has been considered as a mild form of glycogenosis type II (Pompe's disease) without visceral involvement and with survival into adult life.
The possibility that a peculiar metabolic pattern could be present in this form of glycogenosis is discussed along with other existing hypotheses seeking to explain the relative mildness of the disease in spite of the huge accumulation of glycogen.
Zusammenfassung
Es wird ein 7jähriger Knabe beschrieben, welcher seit früher Kindheit eine Muskelschwäche mit diffuser Hypotrophie und Hypotonie aufwies. Psychischer Entwicklungsrückstand, aber keine Hepato- oder Kardiomegalie.
Eine Muskelbiopsie zeigte große Mengen von Glykogen innerhalb der Muskelfasern. Die elektronenoptische Untersuchung zeigte, daß das Glykogen sowohl frei zwischen den Myofilamenten als auch in membranumgebenen Vesikeln, möglicherweise Lyosomen gespeichert war. Es konnte biochemisch das Fehlen der sauren Maltase im Muskelgewebe gezeigt werden. Es wurde angenommen, daß es sich um eine milde Form der Glykogenose vom Typus II (Pompe) handelt ohne viscerale Beteiligung und mit Überleben bis in das Erwachsenenalter. Es wurde die Möglichkeit diskutiert, daß im vorliegenden Fall eine besondere Form der Stoffwechselstörung vorlag, welche den relativ milden Verlauf der Erkrankung trotz der hochgradigen Glykogenspeicherung erklären könnte.
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Canal, N., Frattola, L. & Pellegrini, G. Skeletal muscle glycogenosis type II: Biochemical and electron microscopic investigations of one case. Z. Neurol. 201, 98–108 (1972). https://doi.org/10.1007/BF00316197
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DOI: https://doi.org/10.1007/BF00316197