Cochlear implantation in a 16-month-old with Chudley-McCullough Syndrome

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

“…These variations underscore the heterogeneity of CMS phenotypes and emphasize the importance of individualized clinical assessment and management. Regarding consanguinity, while CMS is known to predominantly occur in populations with high rates of consanguineous marriages, such as certain Middle Eastern and North African communities, the absence of consanguinity in our two cases challenges this notion [ 3 , 5 ]. This observation suggests that genetic factors beyond consanguinity may contribute to the prevalence of CMS, warranting further investigation into the underlying genetic mechanisms and environmental influences driving the syndrome's occurrence.…”

“…In line with the management of most types of hearing loss, the initial treatment approach for our patients involved amplification with hearing aids [ 5 , 6 ]. However, similar to other CMS patients, the hearing aids yielded unsatisfactory outcomes, and subsequent testing revealed impaired receptive and expressive language abilities.…”

“…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 ].…”

“…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][4][5][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.…”