A case of cochlear implantation in a patient with Epstein syndrome

Takashi Nabekura; Yuki Nagano; Keiji Matsuda; Tetsuya Tono

doi:10.1016/j.anl.2014.09.004

A case of cochlear implantation in a patient with Epstein syndrome

Auris Nasus Larynx. 2015 Apr;42(2):160-2. doi: 10.1016/j.anl.2014.09.004. Epub 2014 Oct 5.

Authors

Takashi Nabekura¹, Yuki Nagano², Keiji Matsuda², Tetsuya Tono²

Affiliations

¹ Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan. Electronic address: takashi_nabekura@med.miyazaki-u.ac.jp.
² Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan.

PMID: 25293679
DOI: 10.1016/j.anl.2014.09.004

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.

Keywords: Cochlear implantation; Epstein syndrome; MYH9 gene.

Publication types

Case Reports

MeSH terms

Child
Cochlear Implantation*
Hearing Loss, Sensorineural / complications
Hearing Loss, Sensorineural / etiology
Hearing Loss, Sensorineural / rehabilitation*
Humans
Male
Speech Discrimination Tests
Thrombocytopenia / complications
Thrombocytopenia / congenital*
Thrombocytopenia / rehabilitation
Treatment Outcome

Supplementary concepts

MYH9-Related Disorders