Raza Aiza Fatima, Paudel Dilli Raj, Nisha Kavassery Venkateswaran
Department of Audiology, All India Institute of Speech and Hearing (AIISH), Naimisham Campus, Mysore, India.
J Audiol Otol. 2022 Jul;26(3):160-165. doi: 10.7874/jao.2021.00444. Epub 2021 Nov 16.
Johanson Blizzard syndrome (JBS) is an autosomal recessive disorder that shows a multi-faceted impact on almost all body functions, including speech and hearing. This case presentation describes the comprehensive audiological and rehabilitative profile of an 8-year-old female child with JBS while correlating the test results to the physiological aspects of hearing. Case history revealed poor developmental motor skills, delayed speech and language development with hypothyroidism, and dysmorphic facial features including low bat ears, micrognathia, high arched palate, and hypoplasia of nasal alae. Conditioned pure-tone audiometric responses revealed profound hearing loss of cochlear origin in both ears, which was substantiated with bilateral A-type tympanogram in immittance evaluation. Otoacoustic emissions and auditory brain stem response were absent in both ears, consistent with the audiometric findings. Rehabilitation attempts with a cochlear implant and hearing aid in the opposite ears showed differential improvements, which were in harmony with the aided thresholds. The physiological basis for each finding and future implications are discussed.
约翰森-布利兹综合征（JBS）是一种常染色体隐性疾病，几乎对身体所有功能都有多方面影响，包括言语和听力。本病例报告描述了一名患有JBS的8岁女童的全面听力学和康复情况，并将测试结果与听力的生理方面相关联。病史显示发育运动技能差、伴有甲状腺功能减退的言语和语言发育迟缓，以及面部畸形特征，包括低耳位、小颌畸形、高腭弓和鼻翼发育不全。条件纯音听力测试反应显示双耳均为耳蜗源性重度听力损失，这在声导抗评估中的双侧A型鼓室图得到证实。双耳均未引出耳声发射和听觉脑干反应，与听力测试结果一致。在对侧耳使用人工耳蜗和助听器的康复尝试显示出不同程度的改善，这与助听阈值相符。文中讨论了各项发现的生理基础及未来意义。
