Yang H, Feng H F, Lu W
Department of Radiology, Zhengzhou University First Affiliated Hospital, Zhengzhou 450052, China.
Department of Otorhinolaryngology, Zhengzhou University First Affiliated Hospital, Zhengzhou 450052, China.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Apr 7;59(4):366-372. doi: 10.3760/cma.j.cn115330-20231019-00160.
To assess the clinical features and CT diagnostic characteristics of Branchio-Oto-Renal or Branchio-Oto Syndrome 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. 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 in 12 cases and 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. 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.
评估鳃耳肾综合征或鳃耳综合征的临床特征及CT诊断特点 回顾性分析13例经基因检测确诊的鳃耳肾综合征（BORS）或鳃耳综合征（BOS）患者的颞骨CT表现及临床特征。其中男性8例，女性5例，年龄1～39岁，中位年龄9岁，其中3对（6例）为亲子关系。13例均有听力损失及耳前瘘管，11例伴有第二鳃裂瘘管。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。基因检测突变位点12例位于 ，1例位于 。20耳显示蜗底直径逐渐变窄，第二转发育不全，顶转未发育。10耳前庭壁及水平半规管不规则，7耳前庭增宽，3耳前庭与水平半规管融合。3耳前庭导水管扩大，8耳内耳道扩大。17耳锤骨与鼓室粘连。6耳因鼓室炎症覆盖无法测量砧镫关节角度，3耳未显示砧镫关节，8耳砧镫关节角度大于122°。6耳卵圆窗欠佳，1耳圆窗欠佳。18耳咽鼓管扩张，11耳伴有鼓室或乳突炎。22耳鼓膜前外侧移位，17耳中颅窝低位，3耳外耳道狭窄。耳蜗发育异常、听骨链畸形及咽鼓管扩张构成BOS/BORS的特征性CT表现，其CT表现多样且复杂。颞骨CT能准确评估耳蜗、听小骨、前庭、半规管、前庭导水管及内耳道等重要结构。结合双侧、混合性听力损失、耳前瘘管及鳃裂瘘管的临床特征可为早期诊断及治疗提供有价值的信息。
