ArticleHoroupian DS, Kini KR, Weiss L, Follmer R.
Arch Neurol. 1978 Mar;35(3):175-8.
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.