Mikkelsen Kasper Sandager, Tranebjærg Lisbeth, Mey Kristianna
a Department of Otorhinolaryngology , Holstebro Regional Hospital , Holstebro , Denmark.
b Department of Clinical Genetics , Rigshospitalet/The Kennedy Centre, and Institute of Clinical Medicine, University of Copenhagen , København , Denmark.
Cochlear Implants Int. 2019 Mar;20(2):100-103. doi: 10.1080/14670100.2018.1550849. Epub 2018 Nov 28.
A 10-year-old boy with fluctuating sensorineural hearing loss (SNHL) and biallelic mutations in the SLC26A4 gene and with inner ear anomalies received a cochlear implantation. SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic EVA or classic Pendred syndrome; the latter also associated with thyroid dysfunction. The inner ear malformations in this group of patients have been considered a relative contraindication against cochlear implantation because of the potential per- and postoperative complications such as peroperative cerebrospinal fluid leak or postoperative vestibular symptoms. In the current case there were no surgical or postoperative complications, indicating that extremely enlarged endolymphatic sacs are not as such a contraindication for cochlear implantation. This case also illustrates the management dilemma of an appropriate timing for cochlear implantation.
一名10岁男孩患有波动性感音神经性听力损失（SNHL），SLC26A4基因双等位基因突变且内耳存在异常，接受了人工耳蜗植入。SLC26A4突变与不同程度的SNHL和前庭导水管扩大（EVA）相关，EVA可表现为非综合征性EVA或典型的 Pendred综合征；后者还与甲状腺功能障碍有关。由于可能出现手术中和术后并发症，如术中脑脊液漏或术后前庭症状，这组患者的内耳畸形被认为是人工耳蜗植入的相对禁忌证。在当前病例中，未出现手术或术后并发症，这表明极度扩大的内淋巴囊本身并非人工耳蜗植入的禁忌证。该病例还说明了人工耳蜗植入合适时机的管理困境。
