Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant

Abstract

In this article, we aim to present details of the cochlear implantation procedure performed in a patient with Primrose syndrome, which is a rare genetic condition characterized by physical deformities, sensorineural hearing loss, and metabolic disorders. While its long-term prognosis is still under investigation, the absence of intraoperative and postoperative complications indicates promising findings. This designates cochlear implantation as a viable therapeutic approach for sensorineural hearing loss linked to Primrose syndrome. As cochlear implantation in cases with Primrose syndrome has not been discussed previously in the literature and our patient has recently been operated on, additional investigation is imperative to broaden the understanding of cochlear implant outcomes in this patient population.

Keywords: Hearing loss; Primrose syndrome; case report; cochlear implantation; genetic disease; otorhinolaryngology.