Cochlear implant in Kearns-Sayre syndrome: A case study of twin sisters

Letícia Sampaio de Oliveira, Karina Costa Brosco, Eduardo Boaventura Oliveira, Kátia de Freitas Alvarenga

Article ID: 1669
Vol 1, Issue 2, 2020
DOI: https://doi.org/10.54517/wt.v1i2.1669
VIEWS - 916 (Abstract)

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Abstract

Hearing loss may be related to several factors, including hearing loss resulting from certain genetic syndromes. Kearns-Sayre syndrome is characterized by mutations in mitochondrial DNA (deoxyribonucleic acid), responsible for the production of energy (adenosine triphosphate-ATP), which is extremely important for the development of structures that require it, such as the cochlea. The case was followed up at the hospital since 2000, due to the progressive characteristic of hearing loss found in audiological tests and findings in cases related to the syndrome. The intervention with individual sound amplification devices proved to be of little benefit for good oral communication of one of the patients, who was diagnosed with bilateral profound hearing loss. Thus, after discussions in clinical meetings, the team opted for the indication of the cochlear implant for the patient, according to the current criteria for indication of this surgery, and with which it obtained good results. His twin sister, who presented good results with hearing aids, will continue in audiological follow-up, to verify the evolution of the case and discuss a new approach, if necessary. Patients with suspected or diagnosed Kearns-Sayre syndrome should seek audiological diagnosis, because it is a possible progressive hearing loss, requiring rehabilitation with the use of hearing devices. Maintaining oral communication is extremely important because, in these cases, other functions will be impaired, such as muscle tone and vision.


Keywords

hearing loss; cochlear implant; syndrome; diseases in twins; audiology


References

1. Godinho R, Keogh I, Eavey R. Genetic hearing loss. Revista Brasileira de Otorrinolaringologia 2003; 69(1): 100–104.doi: https://doi.org/10.1590/S0034-72992003000100016

2. Kokotas H, Petersen M B, Willems PJ. Mitochondrial deafness. Clinical Genetics 2007; 71(5): 379–391. doi: https://doi.org/10.1111/j.1399-0004.2007.00800.X

3. Tzoufi M, Makis A, Chaliasos N, et al. A rare case report of simultaneous presentation of myopathy, Addison’s disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. European Journal of Pediatrics 2013; 172(4): 557–561. doi: https://doi.org/10.1007/s00431-012-1798-1

4. de Carvalho MFP, Ribeiro FAQ. Hearing impairments related to mitochondrial DNA alterations. Revista Brasileira de Otorrinolaringologia 2002; 68: 268–275. doi: https://doi.org/10.1590/S0034-72992002000200018

5. Kornblum C, Broicher R, Walther E, et al. Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. Journal of Neurology 2005; 252(9): 1101–1107. doi: https://doi.org/10.1007/s00415-005-0827-7

6. Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Archives of Ophthalmology 1958; 60(2): 280–289. doi:https://doi.org/10.1001/archopht.1958.0094008029616

7. Nasseh IE, Tengan CH, Kiyomoto BH, et al. Mitochondrial diseases. Revista Neurociências 2001; 9(2): 60–69.

8. Zago Filho LA, Shiokawa N. Kearns-Sayre syndrome: Report of two cases. Arquivos Brasileiros de Oftalmologia 2009; 72: 95–98. doi: https://doi.org/10.1590/S0004-27492009000100019

9. Rowland L P, Hausmanowa-Petrusewicz I, Bardurska B, et al. Kearns-Sayre syndrome in twins: Lethal dominant mutation or acquired disease? Neurology 1988; 38(9): 1399–402. doi:https://doi.org/10.1212/WNL.38.9.1399

10. Tzoufi M, Makis A, Chaliasos N, et al. A rare case report of simultaneous presentation of myopathy, Addison’s disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns-Sayre syndrome. European Journal of Pediatrics 2013; 172(4): 557–561. doi:https://doi.org/10.1007/s00431-012-1798-1

11. Kornblum C, Broicher R, Walther E, et al. Sensorineural hearing loss in patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome. Journal of Neurology 2005; 252(9): 1101–1107. doi:https://doi.org/10.1007/s00415-005-0827-7

12. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38(9): 1339–1046. doi: https://doi.org/10.1212/WNL.38.9.1339.

13. Silva DPC, Lopez PS, Montovani JC. Steady-state auditory response in auditory assessment in infants with cytomegalovirus. Revista Paulista de Pediatria 2013; 31: 550–553.

14. doi:https://doi.org/10.1590/S0103-0582201300040020

15. Bahmad Jr F, Costa CSA, Teixeira MS, et al. Familial Alström syndrome: A rare cause of bilateral progressive hearing loss. Brazilian Journal of Otorhinolaryngology 2014 80(2): 99–104. doi:https://doi.org/10.5935/1808-8694.20140023

16. Pijl S, Westerberg BD. Cochlear implantation results in patients with Kearns-Sayre syndrome. Ear and Hearing 2008; 29(3): 472–475. doi:https://doi.org/10.1097/01.ud.0000310791.83193.62

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