A case of cochlear implantation in a patient with Epstein syndrome

作者：Nabekura Takashi^*; Nagano Yuki; Matsuda Keiji; Tono Tetsuya

来源：Auris Nasus Larynx, 2015, 42(2): 160-162.

DOI：10.1016/j.anl.2014.09.004

• Cochlear implantation
• Epstein syndrome
• MYH9 gene

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.

• 出版日期2015-4