Dasgupta, S.; Hong, J.; Morris, R.; Iqbal, J.; Lennox, A.; Saniasiaya, J. X-linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Conductive Hearing Loss. Preprints2023, 2023070355. https://doi.org/10.20944/preprints202307.0355.v1
APA Style
Dasgupta, S., Hong, J., Morris, R., Iqbal, J., Lennox, A., & Saniasiaya, J. (2023). X-linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Conductive Hearing Loss. Preprints. https://doi.org/10.20944/preprints202307.0355.v1
Chicago/Turabian Style
Dasgupta, S., Amy Lennox and Jeyasakthy Saniasiaya. 2023 "X-linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Conductive Hearing Loss" Preprints. https://doi.org/10.20944/preprints202307.0355.v1
Abstract
Conductive hearing losses are typically present in disorders of the external/middle ear. However, there is a rare group of inner ear conditions called third windows that can also generate a conductive hearing loss. This is due to an abnormal connection between the middle and the inner ear or between the inner ear and the cranial cavity. X-linked gusher disorder is an extremely rare congenital inner ear dysplastic syndrome with such an abnormal connection due to a characteristic incomplete cochlear partition type 3 and an incomplete internal auditory meatus fundus. The disorder is inherited in an X-linked fashion due to the mutation of the POU3F4 gene. We present 2 siblings diagnosed with the condition and their long term follow ups. They both presented with audiovestibular symptoms and showed progressive mixed losses and bilateral vestibular weakness. They were treated with cochlear implant, digital amplification and with vestibular rehabilitation. Significant others around them were involved in their journey with the medical team and in both, a very favourable outcome was achieved. This is the first time that we are reporting evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively.
Keywords
Third window; X-linked gusher; hearing loss; audiovestibular; POU3F4
Subject
Medicine and Pharmacology, Otolaryngology
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
