Cochlear implantation for severe mixed hearing loss caused by Treacher Collins syndrome - a case report

Abstract

Introduction. Treacher Collins syndrome (TCS) is a rare ge-netic condition characterized by typical head and neck mal-formations occurring in 1:50,000 newborns. Permanent con-ductive or mixed hearing loss of various degrees is diagnosed in 50% of individuals with TCS. A prerequisite for speech and language development in children with permanent mixed hearing impairment is the application of one of the bone conduction hearing aids. Choosing an adequate hearing aid in this case depends primarily on the degree of hearing impair-ment and the type of ear malformation. Case report. We present a female patient with multiple genetic malformations due to TCS. The patient was, immediately after birth, referred for audiological evaluation because of considerable ear and face malformations. Using a hearing test battery, permanent mixed, predominantly conductive, bilateral hearing loss of se-vere degree was diagnosed. The use of bone conduction hear-ing aids (including the Vibrant® Soundbridge middle ear im-plant) in the patient did not give the expected results - suffi-cient amplification for adequate speech and language devel-opment. Only after cochlear implantation at the age of nine did the patient's hearing threshold stabilize and her commu-nication and academic potential develop to full capacity. Conclusion. If a middle ear implant is not sufficient for ade-quate amplification, cochlear implantation should be consid-ered as an appropriate solution for treating severe permanent mixed hearing impairment in patients with TCS.