A Case of Childhood Hearing Loss,

Lauren Buck, MD¹; Kandice C. Bailey¹; Jeffery D. Carron, MD¹

Author Affiliations Article Information

• ¹Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, Jackson

JAMA Otolaryngol Head Neck Surg. Published online July 18, 2019. doi:10.1001/jamaoto.2019.1701

Case

An 8-year-old boy accompanied by his mother presented with hearing loss. The patient failed a school-administered hearing screening as well as a subsequent hearing screening performed by his pediatrician. According to his mother, the patient had struggled with his hearing, often failing to respond to vocalizations and requiring statements to be frequently repeated. He reportedly passed his newborn hearing screening and his mother had no serious hearing concerns prior to his failed school screening. Physical examination revealed no effusions, while formal audiological testing revealed restricted middle ear mobility and bilateral moderately severe mixed hearing loss rising to normal hearing sensitivity in both ears (Figure, A). Medical history included corrective lens replacement surgery in early childhood and a family history of childhood hearing loss in the patient’s maternal grandfather. A noncontrast computed tomography (CT) scan of the temporal bones revealed bilateral enlargement of the vestibular aqueducts (Figure, B), fistulous communication between the internal auditory canal (IAC) and the basal turn of the cochlea (Figure, C), and a bulbous dilation of the IAC (Figure, D). Given the family history of childhood-onset hearing loss, genetic testing was performed and revealed genetic mutation of the POU3F4 gene.

Figure.

A, Audiogram results showing bilateral moderately severe mixed hearing loss rising to normal hearing. Symbols indicate air conduction (right ear, circle; left ear, ×) and bone conduction with masking (right ear, [; left ear, ]). B, A noncontrast computed tomographic (CT) image of the right ear, axial view, showing enlarged vestibular aqueduct (arrowhead). C, A noncontrast CT image of the right ear, coronal view, showing a fistulous connection between the internal auditory canal (IAC) and the basal turn of the cochlea (arrowhead). D, A noncontrast CT image of the right ear, axial view, showing bulbous dilation of the IAC and incomplete separation between the IAC and the basal turn of the cochlea (arrowhead). Identical findings were also present on the contralateral side.

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What Is Your Diagnosis?

1. Branchio-oto-renal syndrome
2. X-linked deafness 2
3. Usher syndrome
4. Pendred syndrome

Discussion

Diagnosis

B. X-linked deafness 2

X-linked deafness 2, is a rare, nonsyndromic genetic deafness with characteristic radiological findings. In patients with this type of deafness, the vestibular aqueducts are enlarged, and many have a fistulous connection between the IAC and the basal turn of the cochlea.¹ These anatomical changes are best demonstrated with CT imaging of the temporal bones.

Also known as stapes gusher syndrome and Nance deafness, X-linked deafness 2 was first described in 1973 by Nance et al as “X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher.”² Stapes gusher refers to the dramatic leakage of perilymphatic fluid during stapes surgery. While the occurrence of a gusher is a rare phenomenon, it is a devastating surgical complication if affected patients are not identified preoperatively via radiologic imaging.³ The association of X-linked deafness with stapes gusher is attributed to an aberrant communication between the subarachnoid and perilymphatic spaces. In the present case, the noncontrast CT images showed a fistulous communication between the IAC and the basal turn of the cochlea (Figure, B and C). This channel between the IAC and the basilar cochlea likely results from the absence of the lamina cribrosa, which is a bony plate that separates the 2 spaces.⁴ In a case series, Phelps et al⁵ demonstrated the described radiological findings in 16 of 24 male patients with X-linked mixed hearing loss. Likewise, Papadaki et al⁶ described the occurrence of X-linked deafness with stapes gusher in 2 sisters with mixed hearing loss. High-resolution CT scan of the 2 patients demonstrated bulbous dilation of the IAC as well as incomplete separation between the IAC and the basal turn of the cochlea.⁶

Inner ear anatomic malformations in this patient population result in a progressive increase in the perilymph pressure. As the pressure steadily increases, the fixation of the stapes worsens, contributing to the progressive nature of the mixed hearing loss in this condition. The abnormal connection between the IAC and the cochlea also results in a pathologic third window that worsens air conduction thresholds and improves bone conduction. The air-bone gap is often largest in the lower frequencies, and the theorized improvement in bone conduction thresholds may be masked by the additional sensorineural hearing loss in this condition.⁷

As the name suggests, this form of hereditary hearing impairment follows an X-linked recessive pattern. Therefore, those who are symptomatic tend to be young males who inherited the affected chromosome from their mothers. As in this patient, individuals typically present with early-onset hearing loss that is most often of a mixed nature with rapid progression to severe deafness during the first decade of life.⁸ The POU3F4 gene, which is localized to the X chromosome, has been suggested as responsible for causing X-linked deafness 2.⁹ Mutations in the associated POU3F4 transcription protein affect its ability to bind to DNA, disrupting the development of normal structures within the middle and inner ear.¹⁰

Although a rare clinical entity, X-linked deafness 2 must be identified early to prevent the occurrence of surgical complications as well as allowing for early hearing loss intervention during formative years. Given this condition’s distinctive inner ear anomalies, radiological imaging must be considered in patients who present with fitting history and early-onset mixed hearing loss.

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Article Information

Corresponding Author: Lauren Buck, MD, Department of Otolaryngology and Communicative Sciences, University of Mississippi Medical Center, 2500 N State St, Jackson, MS 39216 (lsbuck@umc.edu).

Published Online: July 18, 2019. doi:10.1001/jamaoto.2019.1701

Conflict of Interest Disclosures: No disclosures were reported.

Additional Contributions: We thank the patient’s parents and the patient for granting permission to publish this information.

References

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