Cochlear implantation in Childhood Ataxia with Central nervous system Hypomyelination Syndrome

Childhood Ataxia with Central nervous system Hypomyelination, also known as leukoencephalopathy with Vanishing white matter, is a rare genetic disorder of autosomal recessive transmission, belonging to the hypomyelinating leukodystrophy family. It is characterized by progressive degradation of cerebral white matter, leading to cerebellar ataxia, various cognitive disorders, and muscle stiffness, as well as deafness. The diagnosis is made on the basis of a combination of clinical and radiological evidence, together with the identification of a mutation in the Eukaryotic Initiation Factor-2B gene. At present, there is no curative treatment, hence the importance of prevention of possible causes of cellular stress and early initiation of symptomatic treatment, with particular emphasis on rehabilitation of auditory function. In this case study, we report on a cochlear implant performed in a 6-year-old girl with this syndrome and profound bilateral sensorineural hearing loss, with the aim of assessing the results and impact on the patient's social and educational integration.