Large vestibular aqueduct syndrome is a congenital genetic disorder characterized by enlargement of the vestibular aqueduct and associated sensorineural deafness. It was first described and officially named by Valvassori in 1978. The disease is associated with autosomal recessive inheritance and is now identified as being caused by a PDS gene lesion with a clear tendency to run in families. The diagnosis of this disease was previously low, but in recent years the application of high-resolution CT and the creation of genetic diagnostic techniques for deafness have enabled early diagnosis of the disease. Patients usually start to develop the disease around 1-2 years of age, and the main manifestation is a fluctuating progressive hearing loss (sometimes good, sometimes bad), the degree of hearing loss varies, the early hearing loss is mild, and then gradually worsens or even total deafness. The degree of hearing loss varies. Hearing loss can be caused by cold, head collision and other factors. Some patients present with episodes of vertigo with fluctuating hearing loss, similar to Meniere’s disease. The disease develops in both ears. There is no effective treatment for this disease. Some parents of children with this disease feel that their hearing has improved after they have been given some medication, but this change in hearing is not a real therapeutic effect. Because the hearing characteristics of this disease is fluctuating, if there is improvement is likely to be in the peak of hearing fluctuations. If the hearing threshold is 70-80dB, early cochlear implantation is necessary to achieve useful hearing and good development of the speech center as soon as possible.