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Updated: May 19, 2026
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Published on: February 21, 2016
Cochlear nerve deficiency in children with CHARGE syndrome
Meredith A Holcomb1, Zoran Rumboldt, David R White
1Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, Charleston, South Carolina 29425, USA.
The Laryngoscope
|August 30, 2012
Summary
Cochlear nerve deficiency is a common cause of profound hearing loss in children with CHARGE syndrome. Magnetic resonance imaging (MRI) of the cochlear nerve is recommended for these patients to guide treatment decisions.
Area of Science:
- Otolaryngology
- Pediatric Genetics
- Neuroimaging
Background:
- CHARGE syndrome is a genetic disorder associated with multiple congenital anomalies.
- Inner ear malformations are frequently observed in CHARGE syndrome, but the role of cochlear nerve deficiency in hearing loss is less understood.
Purpose of the Study:
- To investigate the prevalence and characteristics of cochlear nerve deficiency and internal auditory canal (IAC) abnormalities in children diagnosed with CHARGE syndrome.
- To correlate imaging findings with auditory-evoked brainstem response (ABR) results.
Main Methods:
- A case series of children with CHARGE syndrome evaluated between 2006 and 2009.
- Morphological assessment of the inner ear, IAC, and cochlear nerves using computed tomography (CT) and magnetic resonance imaging (MRI).
- Auditory-evoked brainstem response testing was performed.
Main Results:
- Of 17 patients, 14 ears had profound sensorineural hearing loss (SNHL).
- CT revealed inner ear abnormalities in 93% of evaluated ears, including cochlear aperture narrowing in 16 ears.
- MRI demonstrated absent or deficient cochlear nerves in 13 of 14 ears with SNHL.
Conclusions:
- Cochlear nerve deficiency is a significant, previously underrecognized cause of SNHL in CHARGE syndrome.
- MRI evaluation of the cochlear nerve is crucial for accurate diagnosis and therapeutic planning, particularly for cochlear implantation in CHARGE patients with profound SNHL.
Related Concept Videos
01:22Hair Cells
Hair cells are the sensory receptors of the auditory system—they transduce mechanical sound waves into electrical energy that the nervous system can understand. Hair cells are located in the organ of Corti within the cochlea of the inner ear, between the basilar and tectorial membranes. The actual sensory receptors are called inner hair cells. The outer hair cells serve other functions, such as sound amplification in the cochlea, and are not discussed in detail here.
01:13The Cochlea
The cochlea is a coiled structure in the inner ear that contains hair cells—the sensory receptors of the auditory system. Sound waves are transmitted to the cochlea by small bones attached to the eardrum called the ossicles, which vibrate the oval window that leads to the inner ear. This causes fluid in the chambers of the cochlea to move, vibrating the basilar membrane.
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Auditory pathways constitute the complex neural circuits responsible for transmitting and interpreting auditory information from the peripheral auditory system to the brain. Sound waves are initially captured by the outer ear, funneled through the ear canal, and reach the tympanic membrane (eardrum). These vibrations are transmitted via the middle ear's ossicles to the inner ear's cochlea.
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...
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