KEARNS-SAYRE SYNDROME MIGHT BE MIXED UP WITH CPEO PLUS

Authors

  • Josef Finsterer Krankenanstalt Rudolfstiftung, Vienna
  • Sinda Zarrouk- Mahjoub University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis

Keywords:

Mitochondrial, Kearns-Sayre syndrome, mtDNA, seizures, stroke-like episodes, phenotype, genotype, multisystem disease, lactic acidosis

Abstract

In a recent article, Al Ghamdi presented a 40yo parturient with Kearns-Sayre syndrome (KSS) who had received an implantable cardioverter defibrillator (ICD) because of an AVblock II (Mobitz 2 (2:1)) 11y earlier and underwent caesarean delivery for preeclampsia in local anesthesia with bupivacaine and fentanyl.(1) We have the following comments and concerns.

References

Al Ghamdi A. Anesthetic management of a parturient with Kearns-Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature. Saudi J Anaesth; 2018.12:1348. DOI: 10.4103/sja.SJA_630_17

Yu N, Zhang YF, Zhang K, Xie Y, Lin XJ, Di Q. Melas and Kearns-Sayre overlap syndrome due to the mtDNA m. A3243G mutation and large-scale mtDNA deletions. eNeurologicalSci; 2016.4:15-18. DOI: 10.1016/j.ensci.2016.04.006

Seneca S, Verhelst H, De Meirleir L, Meire F, Ceuterick-De Groote C, Lissens W, Van Coster R. A new mitochondrial point mutation in the transfer RNA (Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol; 2001.58:1113-8. PubMed: https://www.ncbi.nlm.nih.gov/pubmed/11448301

Poulton J, Finsterer J, Yu-Wai-Man P. Genetic counselling for maternally inherited mitochondrial disorders. Mol Diagn Ther; 2017.21:419-429. DOI: 10.1007/s40291-017-0279-7

Khambatta S, Nguyen DL, Beckman TJ, Wittich CM. Kearns-Sayre syndrome: a case series of 35 adults and children. Int J Gen Med; 2014.7:325-32. DOI: 10.2147/IJGM.S65560

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Published

2019-01-02

How to Cite

Finsterer, J., & Mahjoub, S. Z.-. (2019). KEARNS-SAYRE SYNDROME MIGHT BE MIXED UP WITH CPEO PLUS. MNJ (Malang Neurology Journal), 5(1), 46–47. Retrieved from https://mnj.ub.ac.id/index.php/mnj/article/view/350

Issue

Section

Letter to Editor