Cochlear implant in a subject affected by the Chudley-McCullough Syndrome.

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.

Quiste aracnoideo espinal pediátrico: a propósito de un caso clínico / Paediatric spinal arachnoid cyst: apropos of a case

Un quiste aracnoideo se define como la presencia de una colección de líquido cefalorraquídeo contenido en la aracnoides. Su hallazgo en pediatría es infrecuente. Aparecen con una prevalencia del 1-3%, con diferentes etiologías. Predomina en el sexo masculino y su localización puede ser intracraneal o a nivel espinal. Puede presentarse ya durante la gestación y ser asintomático o sintomático. La clínica se manifiesta por alteraciones neurológicas. La detección mediante pruebas de imagen en un paciente sintomático permite el tratamiento quirúrgico oportuno. En este artículo explicamos el caso de una paciente pediátrica femenina con un quiste aracnoideo intradural a nivel torácico que presentó afectación neurológica prequirúrgica y siguió un programa de rehabilitación poscirugía

An arachnoid cyst is defined as the presence of a collection of cerebrospinal fluid contained in the arachnoid membrane. Its finding in paediatric patients is uncommon. The prevalence is 1-3%, with different aetiologies. There is a predominance of male sex and the location can be intracranial or spinal. These cysts can occur as early as during pregnancy and be asymptomatic or symptomatic. Clinically they cause neurological problems. Detection by imaging tests in a symptomatic patient allows timely surgical treatment. In this article we report the case of a female paediatric patient with an intradural arachnoid cyst in the chest who had preoperative neurological symptoms and followed a post-surgical rehabilitation programme