Objective

2

This article describes the diagnosis of Perrault syndrome in a male child with profound sensorineural deafness in both ears and gait instability who was successfully implanted with a cochlear implant.

Methods

2

Analyze and organize the preoperative evaluations

surgical procedures

postoperative adjustment parameters

and efficacy assessments of a patient with Perrault Syndrome. Observe the patient's auditory outcomes with a cochlear implant and speech discrimination ability.

Results

2

The patient was diagnosed with Perrault

Syndrome based on the results of genetic testing that confirmed compound heterozygous

TWNK

missense variants (c.1172G

>

A: p.Arg391His and c.1844G

>

C: p.Gly615Ala). The audiological manifestations

in conjunction with clinical findings

are indicative of Auditory Neuropathy Spectrum Disorder (ANSD). The patient

five years after cochlear implant

has an average aided hearing threshold of 30 dB HL and can distinguish and imitate the Ling's Sounds. The Categories of Auditory Performance is at level 6. The Speech Intelligibility Rating is at level 4. The patient can communicate daily with family members

but has slightly poor speech expression ability.

Conclusion

2

Patients with Perrault syndrome who have hearing loss can restore auditory and verbal communication ability after cochlear implantation. The early genetic diagnosis of hearing loss patients plays an important role in the treatment plan

intervention methods and intervention efficacy of patients.