KEARNS-SAYRE SYNDROME - 2 CLINICOPATHOLOGICAL CASES

被引：14
|
作者：
BORDARIER, C
DUYCKAERTS, C
ROBAIN, O
PONSOT, G
LAPLANE, D
机构：
[1] LA SALPETRIERE HOSP,NEUROPATHOL LAB,PARIS,FRANCE
[2] HOP ST VINCENT DE PAUL,SERV NEUROPEDIAT,F-75014 PARIS,FRANCE
[3] LA SALPETRIERE HOSP,MALAD SYST NERVEUX CLIN,PARIS,FRANCE
来源：
NEUROPEDIATRICS | 1990年 / 21卷 / 02期
关键词：
capillary proliferation; demyelination; Kearns-Sayre syndrome; Leigh's disease; mitochondrial DNA deletion; spongiform encephalopathy;
D O I：
10.1055/s-2008-1071473
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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 the brain of this last case.
引用
收藏
页码：106 / 109
页数：4
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