title: 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.
authors.affiliation: Charité-Universitätsmedizin Berlin, Germany.
authors.forename: Lisa
authors.initials: L
authors.lastname: Kaufmann
authors.forename: Todd B
authors.initials: TB
authors.lastname: Sauter
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Lee
mesh_terms: D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology*; D019929:Cochlear Implantation; D003638:Deafness / Q000150:complications / Q000151:congenital / Q000601:surgery; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014849:Waardenburg Syndrome / Q000473:pathology*