Dysplasia of the cerebellum in Waardenburg syndrome: Outcomes following cochlear implantation

Abstract

This study provides the first description of isolated cerebellar dysplasia associated with Waardenburg syndrome (WS) and includes a review of cochlear implant outcomes in 42 WS patients. A 1-year-old male infant presented with speech delay, iris heterochromia, profound hearing loss, and an asymmetric, underdeveloped right occipital skull on CT imaging. Brain MRI demonstrated a hypoplastic right cerebellum, no hydrocephalus, normal auditory nerves and brainstem. He underwent successful bilateral sequential cochlear implantation. Cochlear implants remain a reasonable habilitative option for WS patients with congenital deafness, including those with cerebellar abnormalities.