KEARNS-SAYRE SYNDROME MIGHT BE MIXED UP WITH CPEO PLUS

Josef Finsterer, Sinda Zarrouk- Mahjoub
  MNJ, pp. 46-47  

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.


Keywords


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

Full Text:

PDF

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


Refbacks

  • There are currently no refbacks.