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

Abstract

<p>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.</p>