Kearns-Sayre syndrome Remarks on the pathogenesis with reference to a case with dwarfism and calcification of basal ganglia

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Abstract
A typical case of the infantile variant of mitochondrial CPEO (chronic progressive external ophthalmoplegia), including nanism and calcification of the basal ganglia is presented. The significance of the hereditary factors and the morphological and biochemical investigations on a skeletal muscle biopsy are discussed. In the light of these data the pathogenesis of the condition is discussed. The authors conclude to a structural abnormality of the mitochondrial inner walls rather than to a primary enzymatic defect. Tissue hypoxia, which probably is caused by thickened capillary basal membranes, seems to be the most important causal factor for this mitochondrial disease with its multi-system affection.