Alwadee Rawan M, Alyousef Mohammed Y, Yousef Einas M, Yousef Medhat F
Department of Otolaryngology, College of Medicine, King Saud University, Riyadh, SAU.
Basic Medical Sciences, College of Medicine, Dar Al Uloom University, Riyadh, SAU.
Cureus. 2021 Nov 4;13(11):e19264. doi: 10.7759/cureus.19264. eCollection 2021 Nov.
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive hereditary disorder characterized by multi-system involvement and facial dysmorphic features. One of the most common symptoms in JBS patients is bilateral severe to profound sensorineural hearing loss. The objective of this report is to highlight the performance of those patients after receiving cochlear implants (CI) as a management for their hearing loss. In this study, we reviewed the medical records of one female child diagnosed with JBS before and after cochlear implantation, with a particular focus on their auditory and language performance. After receiving the cochlear implant, our patient showed substantial improvement in her hearing threshold and communication abilities when compared to the preoperative condition. In conclusion, although cochlear implantation is considered a good approach for the management of JBS patients, the development of spoken language is not always achieved.
约汉森-布莱兹综合征（JBS）是一种罕见的常染色体隐性遗传性疾病，其特征为多系统受累及面部畸形特征。JBS患者最常见的症状之一是双侧重度至极重度感音神经性听力损失。本报告的目的是强调这些患者接受人工耳蜗植入（CI）治疗听力损失后的表现。在本研究中，我们回顾了一名确诊为JBS的女童人工耳蜗植入前后的病历，特别关注其听觉和语言表现。接受人工耳蜗植入后，与术前情况相比，我们的患者听力阈值和沟通能力有了显著改善。总之，虽然人工耳蜗植入被认为是治疗JBS患者的一种好方法，但口语发展并不总是能够实现。
