A case of cochlear implantation in a patient with Epstein syndrome.

Abstract

Epstein syndrome is a rare autosomal dominant platelet disorder characterized by thrombocytopenia, giant platelets, and sensorineural hearing loss. It is included among four overlapping syndromes, the others being May-Hegglin anomaly, Fechtner syndrome, and Sebastian syndrome. It is now established that all four disorders are caused by mutations in the MYH9 gene. We report the case of a patient with Epstein syndrome in whom bilateral profound hearing impairment developed and cochlear implantation was carried out. A cochlear implant was successfully used with a speech discrimination score of 100% on a Japanese sentence recognition test. This report offers the second description of the performance of a cochlear implant in a patient with Epstein syndrome. This case study may offer hope for patients and their family members with this kind of mutation.

• Authors: Takashi Nabekura, Yuki Nagano, Keiji Matsuda, Tetsuya Tono
• Journal: Auris, nasus, larynx (Auris Nasus Larynx) Vol. 42 Issue 2 Pg. 160-2 (Apr 2015) ISSN: 1879-1476 [Electronic] Netherlands
• PMID: 25293679 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Topics

• Child
• Cochlear Implantation
• Hearing Loss, Sensorineural (complications, etiology, rehabilitation)
• Humans
• Male
• Speech Discrimination Tests
• Thrombocytopenia (complications, congenital, rehabilitation)
• Treatment Outcome