• 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.
Horoupian DS, Kini KR, Weiss L, Follmer R. Selective Vacuolar Myopathy With Atrophy of Type II Fibers: Occurrence in a Childhood Case of Acid Maltase Deficiency. Arch Neurol. 1978;35(3):175–178. doi:10.1001/archneur.1978.00500270057013
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