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: Lisa Kaufmann, Todd B Sauter, Daniel J Lee
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 74 Issue 1 Pg. 93-6 (Jan 2010) ISSN: 1872-8464 [Electronic] Ireland
• PMID: 19926145 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

Topics

• Cerebellum (abnormalities, pathology)
• Cochlear Implantation
• Deafness (complications, congenital, surgery)
• Humans
• Infant
• Magnetic Resonance Imaging
• Male
• Waardenburg Syndrome (pathology)