PDF(Pubmed)
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.
摘要：
Waardenburg综合征2型（WS2）是一种罕见的遗传性疾病，患病率低，以听觉功能和色素沉着异常为特征。我们介绍了一个2岁的女性儿童的案例，她的发声能力下降，说话发育迟缓,和独特的异色虹膜。最初的听觉评估显示双侧严重至严重的听力损失。随后的MRI检查结果证实后半规管双侧发育不全，符合Waardenburg综合征2型的诊断。虽然使用双侧耳后（BTE）功率助听器的标准治疗仅取得了适度的改善，人工耳蜗植入术在18个月内显着增强了听觉感知和言语能力。该报告强调了WS2的诊断复杂性，并强调了人工耳蜗植入在解决相关听觉挑战方面的深远益处。
