Kearns-Sayre Syndrome. Two Clinico-Pathological Cases
- 1 May 1990
- journal article
- case report
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 21 (02) , 106-109
- https://doi.org/10.1055/s-2008-1071473
Abstract
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.Keywords
This publication has 0 references indexed in Scilit: