Hübner G, Grantzow R
Virchows Arch A Pathol Anat Histopathol. 1983;399(1):115-25. doi: 10.1007/BF00666223.
In this report we describe an idiopathic hypertrophic cardiomyopathy in a 21 month old infant girl; who died shortly after a small surgical intervention for cardiovascular failure. Fine structural investigation disclosed an extreme increase of often abnormally structured and enlarged mitochondria and a great loss of myofibrils in the heart muscle cells. Furthermore, mitochondrial hyperplasia was observed focally in all skeletal muscles investigated. The pathogenesis of this mitochondriopathy in heart and skeletal muscle is unknown. It might be a consequence of a functional mitochondrial defect with compensatory hyperplasia of mitochondria. Differential diagnosis of this very rare infantile cardiomyopathy from the myopathies of storage diseases, typical hypertrophic cardiomyopathy and carnitine defiency is discussed, as is the distinction from the oncocytic or so-called histiocytic transformation of heart muscle cells. Methological hints for diagnostic procedures are given.
在本报告中，我们描述了一名21个月大的女婴患有特发性肥厚型心肌病；她在因心血管衰竭进行小手术干预后不久死亡。精细结构研究发现，心肌细胞中线粒体常常结构异常且增大，数量极度增加，同时肌原纤维大量丢失。此外，在所研究的所有骨骼肌中均局灶性观察到线粒体增生。心脏和骨骼肌中这种线粒体病的发病机制尚不清楚。它可能是线粒体功能缺陷伴线粒体代偿性增生的结果。讨论了这种非常罕见的婴儿型心肌病与贮积病性肌病、典型肥厚型心肌病和肉碱缺乏症的鉴别诊断，以及与心肌细胞的嗜酸性或所谓组织细胞转化的区别。还给出了诊断程序的方法学提示。
