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DOI 10.7759/cureus.55440

Медицинская библиотека · Cureus · 2024

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

Alter Noah E, Introcaso Kailey, Nunez Cathy, Roach Leonor, Ostrower Samuel T

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Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss and cerebral abnormalities, including ventriculomegaly and partial dysgenesis of the corpus callosum. CMS is caused by two inactivating mutations of the G protein signaling modulator 2 (GPSM2), which maintains inner hair cell polarity and spindle orientation. Since its initial description, CMS has been reported approximately 30 times in the medical literature with several individuals undergoing cochlear implantation to restore their hearing. Interestingly, within the past two years, we encountered two cases of CMS in our hospital, which primarily serves patients within a 30-mile radius. To our knowledge, the literature has yet to evaluate two unrelated cases of CMS occurring in such close succession. This case report describes two successful cases of bilateral cochlear implantation in two children with CMS. Notably, these individuals have no family history of consanguinity or prior hearing loss.

Для цитирования: Alter Noah E, Introcaso Kailey, Nunez Cathy, Roach Leonor, Ostrower Samuel T. Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases.. Cureus. 2024. DOI: 10.7759/cureus.55440.
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