Investigate Patients with Kearns-Sayre Syndrome and Their Mothers Thoroughly

Finsterer J MD, PhD (1)
(1) Klinik Landstrasse, Messerli Institute, Postfach 20, Vienna, Austria , Austria

Abstract

With interest we read the article by Sabella-Jimenez et al. about two patients (patient-1, patient-2) with Pearson  syndrome  (PS)  that  evolved  into  chronic  progressive  external  ophthalmoplegia  (CPEO  plus), and lastly Kearns-Sayre syndrome (KSS) with progression of the disease [1]. KSS in patient-1 was due to the single  mtDNA  deletion  NC_012920.1:m.8286_14416del  [1].  KSS  in  patient-2  was  due  to  a  single mtDNA duplication of 7.9kb [1]. Patient-1 deceased at age 10y and patient-2 at age 7y [1]. We have the following comments and concerns

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Finsterer J MD, PhD
fifigs1@yahoo.de (Primary Contact)
MD, PhD, F. J. (2022). Investigate Patients with Kearns-Sayre Syndrome and Their Mothers Thoroughly. Journal of Medical Case Reports and Reviews, 4(04). Retrieved from http://jmcrr.info/index.php/jmcrr/article/view/125
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