title: 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.affiliation: Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan. Electronic address: takashi_nabekura@med.miyazaki-u.ac.jp.
authors.forename: Takashi
authors.initials: T
authors.lastname: Nabekura
authors.affiliation: Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Nagano
authors.affiliation: Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan.
authors.forename: Keiji
authors.initials: K
authors.lastname: Matsuda
authors.affiliation: Department of Otorhinolaryngology, Miyazaki University, Miyazaki, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Tono
mesh_terms: D002648:Child; D019929:Cochlear Implantation; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000209:etiology / Q000534:rehabilitation*; D006801:Humans; D008297:Male; D013063:Speech Discrimination Tests; D013921:Thrombocytopenia / Q000150:complications / Q000151:congenital* / Q000534:rehabilitation; D016896:Treatment Outcome
keywords: Cochlear implantation; Epstein syndrome; MYH9 gene