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Biomedical

X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

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Soumit Dasgupta,

Soumit Dasgupta

Alder Hey Children’s Hospital NHS Foundation Trust, Eaton Road, Liverpool L14 5AB, UK


James Hong,

James Hong

Faculty of Health and Medical Sciences, University of Liverpool, Liverpool L69 3BX, UK


Rhyanna Morris,

Rhyanna Morris

Faculty of Health and Medical Sciences, University of Liverpool, Liverpool L69 3BX, UK


Javed Iqbal,

Javed Iqbal

East Lancashire Hospitals NHS Trust, Burnley BB10 2PQ, UK


Amy Lennox-Bowley,

Amy Lennox-Bowley

Hypatia Dizziness and Balance Centre, Liverpool L1 9ED, UK


Jeyasakthy Saniasiaya

Jeyasakthy Saniasiaya

Faculty of Medicine, University of Malaya, Kualalampur 50603, Malaysia


  Peer Reviewed

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© attribution CC-BY

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rating
531 Views

Added on

2024-12-01

Doi: http://dx.doi.org/10.3390/audiolres13040052

Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
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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 an abnormal connection due to a characteristic incomplete cochlear partition type III 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 two siblings diagnosed with the condition and their long-term follow-ups. They both presented 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 have reported evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively.

Key Questions

X-Linked Gusher Disease

What is X-linked gusher disease? How rare is DFNX2 in children? What causes X-linked gusher disorder?

Symptoms and Diagnosis

What are the symptoms of X-linked gusher disease? How is X-linked gusher disorder diagnosed? What imaging findings indicate X-linked gusher disease?

Hearing and Balance

How does X-linked gusher disease affect hearing? Can X-linked gusher disease cause balance problems? What type of hearing loss occurs in DFNX2?

Treatment and Management

How is X-linked gusher disease treated? Can cochlear implants help patients with X-linked gusher disease? What is the long-term outlook for children with DFNX2?

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 an abnormal connection due to a characteristic incomplete cochlear partition type III 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 two siblings diagnosed with the condition and their long-term follow-ups. They both presented 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 have reported evolving audiovestibular function with vestibular quantification in X-linked gusher disorder and emphasize on the multidisciplinary holistic approach to manage these children effectively.

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Article usage: Dec-2024 to May-2025
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2025 May 134 134
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2025 January 113 113
2024 December 77 77
Total 531 531
Show by month Manuscript Video Summary
2025 May 134 134
2025 April 81 81
2025 March 73 73
2025 February 53 53
2025 January 113 113
2024 December 77 77
Total 531 531
Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
Women and reproductive health
copyright icon

© attribution CC-BY

  • 0

rating
531 Views

Added on

2024-12-01

Doi: http://dx.doi.org/10.3390/audiolres13040052

Related Subjects
Anatomy
Biochemistry
Epidemiology
Genetics
Neuroscience
Psychology
Oncology
Medicine
Musculoskeletal science
Pediatrics
Pathology
Pharmacology
Physiology
Psychiatry
Primary care
Women and reproductive health

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