Familial auditory neuropathy spectrum disorder - A case report

• 主要な著者: Aravinda HR (著者), Shalini A (著者), Prasad CM (著者)
• フォーマット: 図書
• 出版事項: Global Journal of Medical and Clinical Case Reports - Peertechz Publications, 2020-06-20.
• 主題: Case Report
• オンライン･アクセス: Connect to this object online.

要約

<p>Auditory Neuropathy Spectrum Disorder (ANSD) is a hearing disorder where outer hair cell function inside the cochlea is typical, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder which can have any congenital or acquired causes. Additionally, the etiology of auditory neuropathy is immense, which may comprise prematurity, hyperbilirubinaemia, anoxia, hypoxia, congenital brain anomalies, ototoxic drug exposure, and genetic actors. It is projected that roughly 40% of cases have an underlying genetic origin, which can be inherited in both syndromic and non-syndromic conditions. The below case report serves as an extra evidence for the underlying genetic trait in ANSD. The study presents two cases where, both father and daughter were diagnosed as ANSD.</p>

DOI

10.17352/2455-5282.000097