Archives of Plastic Surgery

Korean Society of Plastic and Reconstructive Surgeons (대한성형외과학회)
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Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review

  • Moulay O. Moustaine (Department of Ophthalmology, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University) ;
  • Zakaria Azemour (Department of Ophthalmology, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University) ;
  • Frarchi Mohammed (Department of Ophthalmology, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University) ;
  • Othman Benlanda (Department of Anesthesia Resuscitation, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University) ;
  • Hicham Nassik (Department of Anesthesia Resuscitation, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University) ;
  • Mehdi Karkouri (General Laboratory of Pathological Anatomy, CHU Ibn Rochd, Faculty of Medicine and Pharmacy, Hassan II University)
  • Received : 2023.03.30
  • Accepted : 2023.10.25
  • Published : 2024.03.15
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Abstract

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers." The ptosis was surgically managed by cautious Frontal suspension under local anesthesia "Frontal nerve block." Through this case, we discuss challenges in the management of KSS patients.

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References

  1. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNAin Kearns-Sayre syndrome. Neurology 1988;38(09):1339-1346  https://doi.org/10.1212/WNL.38.8.1339
  2. Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010;10(02):118-126  https://doi.org/10.1007/s11910-010-0096-4
  3. Shemesh A, Margolin E. Kearns-Sayre Syndrome. In: StatPearls. StatPearls Publishing: Treasure Island (FL); 2022 
  4. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Opthalmol 1958;60(02):280-289  https://doi.org/10.1001/archopht.1958.00940080296016
  5. Tsang SH, Aycinena ARP, Sharma T. Mitochondrial disorder: Kearns-Sayre syndrome. Adv Exp Med Biol 2018;1085:161-162  https://doi.org/10.1007/978-3-319-95046-4_30
  6. Capkova M, Tesarova M, Wenchich L, et al. [Disorders of mitochondrial energy metabolism in patients with the Kearns-Sayre syndrome]. Cas Lek Cesk 2002;141(02):51-54 
  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;7:325-332  https://doi.org/10.2147/IJGM.S65560
  8. Gaboune L, Baha Ali T, Benfdil N, et al. [Kearns-Sayre syndrome: a case report]. J Fr Ophtalmol 2012;35(09):718.e1-718.e4  https://doi.org/10.1016/j.jfo.2011.11.001
  9. Isashiki Y, Nakagawa M, Ohba N. Retinal manifestations in mitochondrial diseases. Acta Ophthalmol Scand 1998;76:43-49  https://doi.org/10.1034/j.1600-0420.1998.760108.x
  10. Laloi-Michelin M, Virally M, Jardel C, et al. Kearns Sayre syndrome: an unusual form of mitochondrial diabetes. Diabetes Metab 2006;32(02):182-186  https://doi.org/10.1016/S1262-3636(07)70267-7
  11. Moraes CT, Ricci E, Petruzzella V, et al. Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nat Genet 1992;1(05):359-367  https://doi.org/10.1038/ng0892-359
  12. Kitoh T, Mizuno K, Otagiri T, Ichinose A, Sasao J, Goto H. Anesthetic management for a patient with Kearns-Sayre syndrome. Anesth Analg 1995;80(06):1240-1242  https://doi.org/10.1213/00000539-199506000-00030
  13. Calzavacca P, Schmidt W, Guzzi M. General anaesthesia for laparoscopic cholecystectomy in a patient with the Kearns-Sayre syndrome. Case Rep Anesthesiol 2011;2011:806086 
  14. Cakmak BM, Akpek EA, Arslan G. Anesthesia management of a patient with Kearn's-Sayre syndrome. J Clin Anal Med 2013;4(02):155-157 
  15. Talavan Serna J, Belmonte Bayo L, Gutierrez Rueda E, Rodriguez Martinez S. Anesthetic management of Kearns-Sayre syndrome. Case report. Rev Esp Anestesiol Reanim (Engl Ed) 2021;68(04):232-234  https://doi.org/10.1016/j.redar.2020.04.007
  16. Choi C, Sunwoo IN, Kim HS, Kim DI. Transient improvement of pyruvate metabolism after coenzyme Q therapy in KearnsSayre syndrome: MRS study. Yonsei Med J 2000;41(05):676-679  https://doi.org/10.3349/ymj.2000.41.5.676
  17. Weitgasser L, Wechselberger G, Ensat F, Kaplan R, Hladik M. Treatment of eyelid ptosis due to Kearns-Sayre syndrome using frontalis suspension. Arch Plast Surg 2015;42(02):214-217 https://doi.org/10.5999/aps.2015.42.2.214