Waardenburg综合征(附一例报告并文献复习)

Waardenburg Syndrome:Report of One Case and Review of Literature

目的:提高对Waardenburg综合征的临床、影像学表现的认识及诊断水平。方法:报告我院1例确诊为Waardenburg综合征Ⅰ型的临床及影像学资料,结合文献复习、总结Waardenburg综合征的临床特点及影像学表现。结果:双侧先天性感音神经性聋伴虹膜异色,内眦外移,鼻根增宽是本例的临床特征。CT示双侧耳蜗仅11/2周,骨螺旋板缺如,底周扩大,中及上周融合;双侧前庭扩大;双侧外半规管增粗,右上半规管形成不全;双侧内听道增宽。MRI示双侧耳蜗、前庭及左侧上半规管呈囊状扩张,双侧内耳道扩大,右侧耳蜗神经及前庭下神经显示不清,左侧耳蜗神经明显变细(发育不良)。结论:CT及MRI对检出Waardenburg综合征的内耳畸形有重要价值。Waardenburg综合征有特征性虹膜异色及先天性重度感音神经性聋临床征象。

Objective：To enhance the knowledge of Warrdenburg syndrome in clinical,CT and MRI aspects,in order to improve the accuracy of diagnosis. Methods：Clinical,CT and MRI characteristics of Waardenburg Syndrome type Ⅰ in one case were elaborately analyzed and literatures were reviewed. Results：The clinical characteristics of this case included bilateral congenital sensorineural deafness, heterochromia irides, dystopia canthorum and broadening of nasal root. Temporal bone CT demonstrated anomalies including enlargement of bilateral internal auditory canals, vestibules and lateral semicircular canals and right superior semicircular canal hypoplasla. Bilateral cochlea showed only 11/2 turns,absence of osseous spiral lamina,these resulted in confluency of apical and middle turns as well as widening of the basal turn of cochlea. MRI showed enlargement of bilateral cochlea,vestibules, internal auditory canals as well as cystic left superior semi-circular canal ,also hypoplasia of left cochlear nerve. The right cochlear nerve and inferior vestibular nerve were not assessed well. Conclusion：CT and MRI showed significant value in demonstrating inner ear anomalies in Waardenburg syndrome. Waardenburg Syndrome has characteristic clinical symptoms including congenital profound sensorineural hearing loss and heterochromia irides.