Abstract
In addition to the infantile lethal form of glycogen storage disease with cardiomyopathy (GSD Type IIa, Pompe disease) 1,4 glucosidase or acid maltase deficiency has been reported in a few children and adults (GSD Type IIb or IIc) erroneously thought to have muscular dystrophies. The clinical heterogeneity of the muscle involvement in these latter cases is illustrated in a 12-year-old boy presenting with a right lumbar mass, growth retardation, muscular weakness including difficulty in walking, and marked elevations of muscle and liver enzymes. Light-and electron-microscopic examination of specimens from the lumbar mass, apparently normal skeletal muscle and liver, showed typical changes consistent with the biochemical and enzymatic features of acid maltase deficiency. GSD Type IIb and IIc are more frequent than suspected, may present as local pseudohypertrophy and should be considered in patients with progressive muscle disease and abnormal serum enzymes.
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Abbreviations
- GSD:
-
glycogen storage disease
- SGOT:
-
serum glutamic oxaloacetic transaminase
- SGPT:
-
serum glutamic pyruvate transaminase
- LDH:
-
lactic dehydrogenase
- CPK:
-
creatinine phosphokinase
- MUG:
-
4-methyl-umbelliferyl-alphad-glucoside
References
Baudhuin P, Hers HG, Loeb H (1964) An electron microscopic and biochemical study of type II glycogenosis. Lab Invest 13: 1139–1152
Chou SM, Gutmann L, Martin JD, Kettler HL (1974) Adult-type acid maltase deficiency: pathologic features. Neurology 24:394 (abstr)
Courtecuisse V, Royer P, Habib R, Monnier C, Demos J (1965) Glycogenose musculaire par deficit d'alpha-1-4-glucosidase simulant une dystrophie musculaire progressive. Arch Fr Pediatr 22: 1153–1164
Engel AG (1970) Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain 93:599–616
Engel AG, Dale AJD (1968) Glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations. Mayo Clin Proc 43:233–279
Engel AG, Gomez MR, Marjorie E, Seybold ME, Lambert EH (1973) The spectrum and diagnosis of acid maltase deficiency. Neurology 23:95–106
Galjaard H, Mekes M, DeJosseling-DeJong JE, Niermeijer MF (1973) A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease). Clin Chim Acta 49:361–375
Hudgson P, Fulthorpe JJ (1975) The pathology of type II skeletal muscle glycogenosis. J Pathol 116:139–147
Hug G (1985) Glycogen storage disease. In: Kelley VC (ed) Practice of pediatrics, vol 6. Harper & Row, Philadelphia, pp 1–34
Johnson JA, nash JD, Fusare RM (1963) An enzymic method for the quantitative determination of glycogen. Anal Biochem 5:370–374
McAdams JA, Hug G, Bove KE (1974) Glycogen storage disease, types I to X. Hum Pathol 5:463–487
Mehler M, DiMauro S (1977) Residual acid maltase activity in late-onset acid maltase deficiency. Neurology 27:178–184
Peters TJ, Jenkins W, Dubowitz V (1980) Subcellular fractionation studies on hepatic tissue from a patient with Pompe's disease (type II glycogen-storage disease). Clin Sci 59:7–12
Reuser AJJ, Koster JF, Hoogeveen A, Galjaard H (1978) Biochemical immunological, and cell genetic studies in glycogenosis type II. Am J Hum Genet 30:132–143
Sidbury JB (1982) The glycogenoses. In: Rudolph AM (ed) Pediatrics, 17th ed. Appleton-Century-Crofts, Norwalk, pp 291–294
Smith HL, Amick LD, Sidbury JB Jr (1966) Type II glycogenosis. Am J Dis Child 111:475–481
Steinherz R, Tietze F, Rainford D, Gahl WA, Schulman JD (1982) Pattern of aminoacid efflux for isolated and cystinotic human leukocyte lysosomes. J Biol Chem 257:6041–6049
Steinitz K (1967) Laboratory diagnosis of glycogen diseases. In: Sobotka H, Stewart CP (eds) Advances in clinical chemistry, vol 9. Academic Press, New York, pp 227–354
Swaiman KF, Kennedy WR, Sauls HS (1968) Late infantile acid maltase deficiency. Arch Neurol 18:642–648
Wolfe HJ, Cohen RB (1968) Nonglycogen polysaccharide storage in glycogenosis type 2. Arch Pathol 86:579–584
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Iancu, T.C., Lerner, A., Shiloh, H. et al. Juvenile acid maltase deficiency presenting as paravertebral pseudotumour. Eur J Pediatr 147, 372–376 (1988). https://doi.org/10.1007/BF00496413
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DOI: https://doi.org/10.1007/BF00496413