Kearns-sayre syndrome. Two clinico-pathological cases.
Kearns-sayre syndrome. Two clinico-pathological cases.
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卡恩斯塞尔综合症。
作者：
C. Bordarier;C. Duyckaerts;O. Robain;G. Ponsot;D. Laplane
报告了两例Kearns-Sayre综合征的临床病理病例。在这两种情况下，典型的三联征（进行性眼外肌麻痹，心脏传导阻滞，视网膜色素变性）的存在和海绵状变性是主要的病理发现。在一种情况下，也有一个显着的毛细血管增生，其意义进行了讨论。在最后一个病例的肌肉、脊髓和大脑中发现了线粒体DNA的缺失。
Two clinico-pathological cases of Kearns-Sayre syndrome are reported. In both cases the typical triad (progressive external ophthalmoplegia, heart block, retinitis pigmentosa) was present and spongiosis was the main pathological finding. In one case there was also a marked capillary proliferation, significance of which is discussed. A deletion of the mitochondrial DNA was found in the muscle, spinal cord and brain of this last case.