Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome

White Sutton Syndrome is a rare autosomal dominant disorder resulting from a de novo mutation. The phenotype is characterized by a wide spectrum of cognitive dysfunction and developmental delays. Hearing loss is frequently mentioned as one of the symptoms of this rare disease, but details are usually scant. In this report a case of a male child affected by White Sutton Syndrome and sensorineural hearing loss is shown. Up to date, the present case is the first description of hearing loss due to an auditory neuropathy spectrum disorder in White Sutton Syndrome. A comprehensive audiological assessment is therefore mandatory in all White Sutton Syndrome patients in order to recognize a possible auditory neuropathy disorder and then avoid misdiagnosis, or erroneous clinical management. Read the full article here.