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.

Objectives: The Chudley-McCullough Syndrome (CMS) is a rare autosomal-recessively inherited disorder caused by mutations in the GPSM2 gene, characterised by deafness and brain anomalies. The purpose of this paper is to report about a case of cochlear implant (CI) procedure in a subject affected by CMS. Methods: A 31-year-old subject affected by CMS referred to our centre requiring an evaluation for a CI, as the results with her hearing aids, which she had been using since she was 2-years-old, were unsatisfactory. A profound bilateral sensorineural hearing loss was pointed out. Pure tone audiometry in free field with hearing aids and speech perception results were poor. The subject was counselled about the surgical procedure and the surgery was performed with no complications. Results: The cochlear implant was switched on 22 days after surgery and the subject began speech therapy training. After 1 year, hearing and speech perception results were satisfactory. The hearing threshold in free field with the CI was around 30 dB, and the open set speech perception score reached 55% in silence. Conclusions: The reported case demonstrates that CI is a feasible and safe procedure in subjects with CMS. Furthermore, since satisfactory hearing and speech perception results were achieved we recognise that cochlear implant should be considered the best option for hearing restoration in subjects with CMS and profound sensorineural hearing loss.

Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. The hearing loss may be congenital or early onset. Brain abnormalities are striking, but despite these brain malformations, individuals with CMS do not present significant neurodevelopmental abnormalities. Recently, the cause of CMS has been shown to be the inactivating mutations in G protein signaling modulator 2. We aimed to present a 36-year-old male who has the characteristic clinical and neuroimaging findings of CMS.

暂无摘要。

Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings. We report prenatal imaging features that help distinguish CMS from other disorders, including slit-like frontal horns, agenesis of the corpus callosum, frontal subcortical heterotopia, arachnoid cysts, and cerebellar dysplasia. © 2016 Wiley Periodicals, Inc.

A 7-year-old male child presented with poorly controlled generalized tonic-clonic seizures. On examination, he was mentally retarded, deaf and had a swelling at the root on the nose. Computed tomography scan done previously revealed a left temporal arachnoid cyst (AC) due to which he was referred for surgery. However, magnetic resonance imaging revealed a constellation of abnormalities - all of which could be responsible for his seizures. The combination of periventricular nodular heterotopias with encepaholcele is rarely described in the literature, and more infrequently so its combination with AC and callosal dysgenesis - the Chudley-Mccullough syndrome. We describe the case and review relevant literature on this subject.