Juvenile acid maltase deficiency presenting as paravertebral pseudotumour

T. C. Iancu, A. Lerner, H. Shiloh, N. Bashan, S. Moses

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish
Pages (from-to)372-376
Number of pages5
JournalEuropean Journal of Pediatrics
Issue number4
StatePublished - 1 May 1988
Externally publishedYes


  • Acid maltase deficiency
  • Glycogenosis
  • Liver ultrastructure
  • Lysosomal storage disease
  • Muscle ultrastructure

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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