Waardenburg Syndrome Type 2 in Paediatrics: A Case Highlighting Diagnostic Complexities and the Efficacy of Cochlear Implantation.

Abstract

Waardenburg Syndrome Type 2 (WS2) is a rare hereditary condition with a low prevalence, characterized by abnormalities in both auditory function and pigmentation. We present a case of a 2-year-old female child who exhibited reduced vocalizations, delayed speech development, and distinctive heterochromic irides. Initial auditory assessments revealed bilateral severe to profound hearing loss. Subsequent MRI findings confirmed bilateral aplasia of the posterior semicircular canals, consistent with a diagnosis of Waardenburg syndrome type 2. While standard treatments using bilateral Behind-The-Ear (BTE) power hearing aids yielded only modest improvements, cochlear implantation significantly enhanced auditory perception and speech abilities within 18 months. This report underscores the diagnostic intricacies of WS2 and highlights the profound benefits of cochlear implantation in addressing associated auditory challenges.