Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases

Chudley-McCullough syndrome (CMS) is an exceptionally rare autosomal recessive genetic disorder, primarily arising from mutations within the G protein signaling modulator 2 (GPSM2) gene. First delineated in medical literature in 1997, CMS manifests with a distinctive clinical phenotype marked by bilateral sensorineural hearing loss and cerebral abnormalities, notably hypoplasia of the corpus callosum [1,2]. The interplay between these cardinal features underscores the complex pathogenesis of CMS. At the molecular level, CMS is intricately tied to disruptions in actin polymerization, particularly during the elongation of stereocilia within auditory and vestibular hair cells [3,4]. Mutations in GPSM2 disrupt this regulatory process, leading to aberrant stereocilia morphology and subsequent dysfunction of inner ear hair cells, culminating in profound sensorineural hearing loss [5]. Since its initial description, cochlear implantation stands as a promising treatment option for individuals with CMS afflicted by profound sensorineural hearing loss [6]. Despite the rarity of CMS, the debilitating nature of its auditory manifestations necessitates explorations of interventions to ameliorate communication challenges and improve quality of life. Of the seven reported cases of cochlear implantation in CMS individuals, all have demonstrated significant improvements in auditory function, with some achieving near -normal hearing thresholds postoperatively [3-6]. However, the limited number of reported cases underscores the need for further investigation into the long-term effectiveness and potential complications of cochlear implantation in this population. Moreover, successful cochlear implantation in CMS individuals necessitates a comprehensive, multidisciplinary approach encompassing preoperative assessment, surgical intervention, and postoperative rehabilitation [7]. Close collaboration between otolaryngologists, audiologists, geneticists, and rehabilitation specialists is paramount to optimize patient outcomes and address the unique challenges posed by CMS. In this case report, we outline two successful cases of bilateral cochlear implantation in two young children with CMS diagnosed shortly after birth.