Familial pattern of large vestibular aqueduct syndrome in a Chinese family

Authors

  • Mohd Hazmi Department of Otorhinolaryngology, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, 56000 Cheras, Kuala Lumpur, Malaysia
  • A. Ab Aziz Department of Radiology, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, 56000 Cheras, Kuala Lumpur, Malaysia
  • A. Asma Department of Otorhinolaryngology, Universiti Kebangsaan Malaysia, Jalan Yaacob Latif, 56000 Cheras, Kuala Lumpur, Malaysia

Keywords:

Large Vestibular Aqueduct Syndrome, sensorineural hearing loss, computed tomography

Abstract

Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence of genetic predisposition. We described cases of LVAS in two siblings of a Chinese family. The elder sister first presented with reduced hearing since childhood and her brother has a similar complaint upon further questioning. Their hearing test showed bilateral sensorineural hearing loss (SNHL) and computed tomography (CT) of temporal bone showed enlarged vestibular aqueduct in both patients. We described an approach to diagnosis of LVAS and highlight the importance of hearing assessment in genetic link hearing loss.

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Published

2013-02-15

How to Cite

Hazmi, M., Ab Aziz, A., & Asma, A. (2013). Familial pattern of large vestibular aqueduct syndrome in a Chinese family. EXCLI Journal, 12, 118–121. Retrieved from https://www.excli.de/index.php/excli/article/view/1135

Issue

Vol. 12 (2013)

Section

Case reports

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