Cochlear Implantation in Goldenhar Syndrome

Area of Science:

• Genetics
• Otolaryngology
• Pediatrics

Background:

• Goldenhar syndrome is a rare congenital disorder affecting craniofacial structures, including the ear.
• Congenital hearing loss is a known complication, impacting approximately 1 in 1000 children.
• Surgical interventions like cochlear implantation may be necessary for hearing restoration.

Purpose of the Study:

• To report a unique case of Goldenhar syndrome with significant auditory and facial nerve malformations.
• To describe the surgical approach and outcomes of cochlear implantation in this complex case.

Main Methods:

• Detailed clinical presentation of a patient with Goldenhar syndrome, including physical and radiological findings.
• Surgical procedure for cochlear implantation, noting intraoperative challenges such as anomalous facial nerve and ossicles.
• Intraoperative electrophysiological testing including impedance and electrically evoked action potential (ECAP) measurements.

Main Results:

• The patient presented with right-sided microtia, hemifacial microsomia, and other anomalies.
• Radiological imaging revealed a narrow duplicated right internal auditory canal with an absent right cochlear nerve.
• Left cochlear implantation was performed due to normal left-sided auditory structures, despite a malformed facial nerve, with successful electrode placement and ECAP threshold acquisition.

Conclusions:

• Cochlear implantation can be a viable option for hearing restoration in Goldenhar syndrome patients with severe hearing loss and complex inner ear anomalies.
• Careful pre-operative assessment and tailored surgical techniques are crucial for managing intraoperative challenges.
• Electrophysiological testing is essential to confirm device function and neural integrity.