Bilateral Cochlear Implantation in Facioscapulohumeral Muscular Dystrophy Presenting Sensorineural Hearing Loss / 대한이비인후과학회지

ABSTRACT

Facioscapulohumeral muscular dystrophy (FSHD) presents a muscular weakness in the face, shoulder girdle, and legs. In addition, bilateral, progressive, high-frequency sensorineural hearing loss (SNHL) can be expressed. A 3-year-old boy visited with bilateral facial paralysis and bilateral hearing loss. Audiological evaluations revealed bilateral, progressive, sloping SNHL and bilateral hearing aids was used for more than 3 years. Cochlear implantation was carried out on left side when he was 6 years old and on right side when he was 7 years old. Seven months after cochlear implantation on left side, his shoulder muscle weakness was found and the genetic analysis showed decreased D4Z4 repeat size in 4qA allele confirming a diagnosis of FSHD. After auditory rehabilitation using electroacoustic stimulation, his hearing and speech perception were much improved. This case suggests that cochlear implantation can be beneficial in patients with SNHL associated with FSHD.