Kumar Sanjay, Natraj Rashmi, Dutta Angshuman
Department of ENT, Command Hospital Airforce Bangalore, Rajiv Gandhi University of Health Sciences, Bengaluru, India.
Masters in Audiology and Speech Language Pathology, Department of ENT, Command Hospital Airforce Bangalore, Rajiv Gandhi University of Health Sciences, Bengaluru, India.
Indian J Otolaryngol Head Neck Surg. 2024 Apr;76(2):2100-2103. doi: 10.1007/s12070-023-04427-4. Epub 2023 Dec 12.
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.
2型瓦登伯革氏综合征（WS2）是一种罕见的遗传性疾病，患病率较低，其特征为听觉功能和色素沉着均异常。我们报告一例2岁女童病例，该女童表现为发声减少、语言发育迟缓以及独特的异色虹膜。初步听觉评估显示双侧严重至极重度听力损失。随后的MRI检查结果证实双侧后半规管发育不全，符合2型瓦登伯革氏综合征的诊断。虽然使用双侧耳背式（BTE）大功率助听器的标准治疗仅取得了适度改善，但人工耳蜗植入在18个月内显著提高了听觉感知和语言能力。本报告强调了WS2的诊断复杂性，并突出了人工耳蜗植入在应对相关听觉挑战方面的显著益处。
