Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency.
A 12-year-old boy being examined for vague chest pains was found to be suffering from acid maltase deficiency. Unlike previously reported cases in which vacuolization was most commonly noted in type I fibers, type II fibers were selectively involved in this patient and were atrophic Type I fibers were spared, or occasionally contained one or more small globular structures consisting of large, complex aggregates of lysosomal profiles.
D001284:Atrophy; D002648:Child; D004837:Epinephrine / Q000627:therapeutic use; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D005959:Glucosidases / Q000172:deficiency*; D006801:Humans; D008297:Male; D009132:Muscles / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000188:drug therapy / Q000201:enzymology / Q000473:pathology*
D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase; D004837:Epinephrine