伴有II型纤维萎缩的选择性空泡性肌病。发生于1例儿童酸性麦芽糖酶缺乏症患者。
Selective vacuolar myopathy with atrophy of type II fibers. Occurrence in a childhood case of acid maltase deficiency.
作者信息
Horoupian D S, Kini K R, Weiss L, Follmer R
出版信息
Arch Neurol. 1978 Mar;35(3):175-8. doi: 10.1001/archneur.1978.00500270057013.
Abstract
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.
摘要
一名因胸部隐痛接受检查的12岁男孩被发现患有酸性麦芽糖酶缺乏症。与先前报道的病例不同，先前病例中最常见的空泡化出现在I型纤维中，而该患者的II型纤维被选择性累及且出现萎缩，I型纤维未受影响，或偶尔含有一个或多个由大量复杂的溶酶体轮廓聚集而成的小球状结构。
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