Cochlear implantation for severe mixed hearing loss caused by Treacher Collins syndrome: Case report

Introduction. Treacher Collins syndrome (TCS) is a rare genetic condition characterized by typical head and neck malformations occurring in 1:50,000 newborns. Permanent conductive or mixed hearing loss of various degrees is diagnosed in 50% of individuals with TCS. Adequate amplification of conductive or mixed hearing loss is the prerequisite for speech and language development in those children. The degree of hearing loss and type of ear malformation implies the choice of hearing aids. Case report. We present a patient with multiple genetic malformations due to TCS. The patient (girl) was immediately after birth referred for audiological evaluation because of considerable ear and face malformations. Permanent mixed, predominantly conductive, bilateral hearing loss severe degree was diagnosed using a hearing test battery. The use of bone conduction hearing aids, including the Vibrant Soundbridge middle ear implant did not provide sufficient amplification for adequate speech and language development, and the cochlear implantation performed at the age of nine has finally provided sufficient stimulation for the adequate development of communication and academic achievements. Conclusion. Even though cochlear implantation is rarely considered as a solution for the amplification of hearing impairment in TCS patients, the case of the presented patient has proved that a middle ear implant was insufficient for adequate amplification, so cochlear implantation was necessary to obtain an adequate aided threshold for the full development of communication skills. Cochlear implantation should be considered a plausible solution for permanent severe mixed hearing loss in patients with TCS, when other amplification solutions do not provide adequate aided threshold.