Pau Henry, Gibson William P R, Gardner-Berry Kirsty, Sanli Halit
Graham Fraser Foundation, London, UK and Sydney Cochlear Implant Centre, Gladesville, New South Wales, Australia.
Cochlear Implants Int. 2006 Dec;7(4):202-6. doi: 10.1179/cim.2006.7.4.202.
Waardenburg syndrome presents with dystopia canthorum, pigmentary abnormalities of hair, iris and skin (often a white forelock and heterochromia iridis) and sensorineural deafness. The authors review the electrophysiological and psychophysical findings of implanted children with Waardenburg syndrome at the Sydney Cochlear Implant Centre. Twenty children with Waardenburg syndrome received cochlear implants between 1985 and 2001. Electrical auditory brainstem response (EABR) was performed in all of these patients intra-operatively as part of the routine investigations. Only 13 of these patients were assessed one year or more post-operatively by means of the Melbourne Categories (0-7). Four patients (20%) were found to have abnormal EABR recordings. The mode of Melbourne Categories in this group (n = 3) was 1 at one year post-operation. The other 16 patients were found to have normal EABR and the mode of Melbourne Categories in this group (n = 10) was 7. A poor outcome after cochlear implantation was associated with abnormal EABR recordings (a 'true' auditory neuropathy) and was found in a significant proportion of patients with Waardenburg syndrome.
瓦登伯革氏综合征表现为内眦异位、毛发、虹膜和皮肤色素异常（常为白色额发和虹膜异色症）以及感音神经性耳聋。作者回顾了悉尼人工耳蜗植入中心植入人工耳蜗的瓦登伯革氏综合征患儿的电生理和心理物理学检查结果。1985年至2001年间，20名瓦登伯革氏综合征患儿接受了人工耳蜗植入。作为常规检查的一部分，所有这些患者在手术中均进行了电刺激听性脑干反应（EABR）检查。这些患者中只有13例在术后一年或更长时间通过墨尔本分级法（0 - 7级）进行了评估。4例患者（20%）的EABR记录异常。该组中3例患者术后一年的墨尔本分级法模式为1级。另外16例患者的EABR正常，该组中10例患者的墨尔本分级法模式为7级。人工耳蜗植入术后效果不佳与EABR记录异常（一种“真性”听觉神经病）有关，且在相当比例的瓦登伯革氏综合征患者中发现。
