Kearns-Sayre Syndrome Complicated by Widespread Skeletal Muscle Involvement: Case Report

Kearns-Sayre syndrome is a very rare disease characterized by ophthalmoplegia, retinal pigmentation and heart block. Previous studies have revealed ultrastructural changes in muscles not related to the eye, but the clinical consequences of these changes have not been described in detail. The purpose of this case report, concerned with a woman presenting with heart block and widespread skeletal muscle involvement at the age of 27, in whom the findings of Kearns-Sayre syndrome had appeared at the age of 12, is to contribute to the knowledge about this disease, to discuss a hypothetical model concerning its pathogeneesis, consisting of a combination of the findings of previous studies, and to emphasize its skeletal muscle manifestations.