Bruce Iain A, Broomfield Stephen J, Henderson Lise, Green Kevin M J, Ramsden Richard T
Manchester Royal Infirmary, UK.
Cochlear Implants Int. 2011 Feb;12(1):60-3. doi: 10.1179/146701010X486534.
Donnai-Barrow syndrome is a rare autosomal recessive disorder associated with severe sensorineural hearing loss (SNHL). Several ocular abnormalities have also been described in this syndrome, including hypertelorism, down-slanting palpebral fissures, myopia and retinal detachment. The condition is also associated with diaphragmatic hernia, exomphalos, absent corpus callosum and developmental delay. We describe the first recorded case of cochlear implantation in this rare disorder.
This case of Donnai-Barrow syndrome was identified from our paediatric cochlear implant database. A case-note review was performed identifying patient demographics, operative findings and surgical outcome. In addition, pre- and post-operative auditory and communication performance was analysed.
The child initially received a right cochlear implant at 39 months of age, but unfortunately the device failed 4 years post-operatively. Subsequently, bilateral simultaneous cochlear implantation was performed. BKB scores were 98% for bilateral implant use when tested 2 years post-operatively. Individual testing revealed a score of 94% for the right ear alone, and 80% for the left. The child achieved a 100% score on sound localisation testing using 3 speakers.
Donnai-Barrow syndrome is a rare cause of SNHL compounded by the potential for visual impairment. To our knowledge this is the first report of cochlear implantation to rehabilitate hearing loss in this condition.
唐纳-巴罗综合征是一种罕见的常染色体隐性疾病，与严重的感音神经性听力损失（SNHL）相关。该综合征还存在多种眼部异常表现，包括眼距增宽、睑裂向下倾斜、近视和视网膜脱离。此病还与膈疝、脐膨出、胼胝体缺失及发育迟缓有关。我们报道了首例针对这种罕见疾病进行人工耳蜗植入的病例。
该例唐纳-巴罗综合征患者来自我们的儿科人工耳蜗植入数据库。我们对病例记录进行了回顾，确定了患者的人口统计学信息、手术发现及手术结果。此外，还分析了术前和术后的听觉及交流表现。
该患儿最初在39个月大时接受了右侧人工耳蜗植入，但不幸的是，术后4年该装置出现故障。随后，进行了双侧同时人工耳蜗植入。术后2年测试时，双侧植入使用的BKB评分是98%。单独测试显示，右耳评分为94%，左耳为80%。该患儿使用3个扬声器进行声音定位测试时得分为100%。
唐纳-巴罗综合征是SNHL的罕见病因，且伴有视力受损的可能性。据我们所知，这是首例关于在这种疾病中通过人工耳蜗植入来恢复听力损失的报告。
