鳃耳(肾)综合征患者颞骨CT表现和临床特点

Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome

目的总结鳃耳(肾)综合征患者的颞骨CT影像特征及临床特点,提高对该病的诊断水平。方法回顾性分析郑州大学第一附属医院2019年1月至2022年7月经基因检测证实的13例(26耳)鳃耳(肾)综合征患者的临床及颞骨CT影像资料。其中男8例、女5例,年龄1~39岁,中位年龄9岁,有亲子关系者3对(6例)。结果13例患者均有听力损失和耳前瘘管,其中11例伴第2鳃裂瘘管。混合性听力损失20耳,感音神经性听力损失3耳,传导性听力损失2耳,听力正常1耳。基因检测:EYA1基因突变12例,SIX1基因突变1例。颞骨CT检查,耳蜗基底周管径逐渐变窄,中周发育不良,顶周未发育20耳。前庭与水平半规管管壁不规则10耳,前庭扩大7耳,前庭与水平半规管融合3耳。前庭导水管扩大3耳,内耳道扩大8耳。锤骨与鼓室壁粘连17耳,6耳鼓室内炎症包埋听小骨、无法测量砧镫关节角度,3耳砧镫关节显示不清,8耳砧镫关节角度大于122°。前庭窗闭锁6耳,蜗窗闭锁1耳。咽鼓管骨部扩张、含气18耳,伴鼓室或乳突炎症11耳。中颅窝低位17耳,鼓室向前外侧移位22耳,外耳道狭窄3耳。结论鳃耳(肾)综合征患者的颞骨CT表现具有多样性和复合性,耳蜗发育不良、听骨链畸形和咽鼓管骨部扩张是其特征性表现。颞骨CT检查可准确评估耳蜗、听小骨、前庭、半规管、前庭导水管及内听道等关键解剖结构,结合双侧发病、混合性听力损失、耳前瘘管及鳃裂瘘管等特点,对临床早期诊断、治疗具有重要价值。

Objective To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome.Methods The temporal CT findings and clinical features observations of 13 patients with Branchio-Oto-Renal Syndrome(BORS)or Branchio-Oto Syndrome(BOS)confirmed by genetic testing were retrospectively analyzed.There were 8 males and 5 females,aged from 1 to 39 years,with a median age of 9 years,in which 3 pairs(6 cases)were parent-child relationship.Results All of 13 cases had hearing loss and preauricular fistula,11 cases accompanied by 2nd branchial fistulas.There were 20 ears of mixed hearing loss,3 ears of sensorineural hearing loss,and 2 ears of conductive hearing loss.The mutation point of gene testing was located in EYA1 in 12 cases and SIX1 in 1 case.Twenty ears showed gradually narrowing of the diameter of basal turn,with hypoplasia in the second turn and aplasia in apical turn.There were irregular wall of vestibule and horizontal semicircular canal in 10 ears,widened vestibular in 7 ears,and vestibular fusion with horizontal semicircular canal in 3 ears.Three ears had an enlarged vestibular aqueduct,8 ears showed enlargement of internal auditory canal.Seventeen ears had adhesion of malleolus to tympanic cavity.Six ears could not measured the incudostapedial joint angle by reason of tympanic inflammatory cover,3 ears could not show incudostapedial joint,and 8 ears showed the incudostapedial joint angle more than 122°.Six ears showed poor oval window,and 1 ear had poor round window.Eighteen ears showed distended eustachian tube,and accompanied by tympanic or mastoiditis in 11 ears.Anterolateral shift of tympanum was found in 22 ears,17 ears had low middle cranial fossa,and 3 ears had stenotic external auditory canal.Conclusions Cochlear dysplasia,ossicular chain malformation and distended eustachian tube comprise the characteristic CT signs of BOS/BORS,which possesses versatile and complex CT findings.Temporal CT can accurately assess the important structures such as cochlea,ossicles,vestibule,semicircular canal,vestibular aqueduct and internal auditory canal.Combing with the clinical characteristics of bilateral,mixed hearing loss,preauricular fistula and branchial fistula can provide valuable information for early diagnosis and treatment.