Subscribe to RSS
DOI: 10.1055/a-2207-7587
Management of Ptosis in Kearns–Sayre Syndrome: A Case Report and Literature Review
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.
Keywords
Kearns–Sayre syndrome - ptosis - chronic progressive external ophthalmoplegia - Frontal suspensionAuthors' Contributions
Conceptualization: M.O.M., Z.A. Data curation: M.O.M., Z. A. Writing - original draft: M.O.M., Z.A. Writing - review & editing: M.O.M., Z.A., F.M., B.O., N.H., K.M.
Ethical Approval
The study was approved by the Biomedical Research Ethics Committee of the Faculty of Medicine and Pharmacy of Casablanca (IRB no. 00002504).
Patient Consent
The patient and his family have given their explicit consent for their data and photos to be used for scientific purposes.
Publication History
Received: 30 March 2023
Accepted: 25 October 2023
Accepted Manuscript online:
09 November 2023
Article published online:
08 April 2024
© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)
Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA
-
References
- 1 Zeviani M, Moraes CT, DiMauro S. et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38 (09) 1339-1346
- 2 Berardo A, DiMauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010; 10 (02) 118-126
- 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
- 5 Tsang SH, Aycinena ARP, Sharma T. Mitochondrial disorder: Kearns-Sayre syndrome. Adv Exp Med Biol 2018; 1085: 161-162
- 6 Capková M, Tesarová 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
- 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
- 9 Isashiki Y, Nakagawa M, Ohba N. Retinal manifestations in mitochondrial diseases. Acta Ophthalmol Scand 1998; 76: 43-49
- 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
- 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
- 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
- 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 Çakmak 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 Talaván Serna J, Belmonte Bayo L, Gutiérrez Rueda E, Rodríguez Martínez S. Anesthetic management of Kearns-Sayre syndrome. Case report. Rev Esp Anestesiol Reanim (Engl Ed) 2021; 68 (04) 232-234
- 16 Choi C, Sunwoo IN, Kim HS, Kim DI. Transient improvement of pyruvate metabolism after coenzyme Q therapy in Kearns-Sayre syndrome: MRS study. Yonsei Med J 2000; 41 (05) 676-679
- 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