Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report

Abstract

Cochlear implantation surgery using the SMA with cartilage protection technique appears to be a feasible and effective option for patients with ear anomalies that obstruct the usual approach. A novel frameshift variant c.6405_6406delAG,p.(Ala2137Argfs*2) in CHD7 was also identified in this patient.

Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome—Type II Mucopolysaccharidosis

“…A study has reported similar vessel abnormality in patients with CHARGE syndrome [12]. Ganaha, et al [13] described the performance of CI in a patient with CHARGE syndrome with venous anomalies; those authors used a suprameatal approach with cartilage protection. However, there are no reports of such venous malformation in patients with MPS.…”

“…Profuse bleeding from the transmastoid emissary veins may occur, as we observed in the first surgery; therefore, we selected the transmastoid approach to the round window as an alternate method to the conventional facial recess approach with mastoidectomy. According to the method of Ganaha, et al [13] we created in EAC open tunnel for placement of the electrode array; subsequently, drilling of the medial segment of the EAC posterior wall attained exposure of the round window with relative ease in our patient. However, round window exposure may not be readily achieved in all patients, and since it is a main potential factor of the success of CI through the transmeatal approach, surgeons should consider this issue while planning surgical approach.…”