CT of the ear in Pendred syndrome
CT of the ear in Pendred syndrome
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DOI：
10.1148/radiol.2352031583
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发表时间：
2005-05-01
期刊：
影响因子：
19.7
通讯作者：
Bishara, N
中科院分区：
文献类型：
--
作者：
Goldfeld, M;Glaser, B;Bishara, N
目的：通过使用薄层计算机断层扫描（CT）前瞻性地确定彭德雷德综合征大家庭的内耳结构异常。材料和方法：伦理委员会批准了这项研究，并获得了每位患者或法定年龄以下患者父母的知情同意。 12 名 Pendred 综合征患者（3 名女性和 9 名男性，年龄 7-47 岁）（全部来自同一种族分离株，且 PDS 基因具有相同突变）通过薄层 CT 评估了内耳畸形。对两只耳朵进行评估。评估耳蜗上转和中转之间是否存在标间间隔，并检查前庭和前庭导水管是否扩大。确定蜗轴存在或不存在（蜗轴缺陷）。 CT 扫描由两名放射科医生（M.G.、J.M.G.）一致评估。结果：所有患者两侧均存在内耳畸形。所有 12 名患者均无轴心轴且两侧前庭扩大。 24 只耳朵中，有 18 只（7%）没有间隔。在八名患者中，双耳间间隔缺失，而在两名患者中，仅一侧耳间间隔缺失。 24 耳中的 20 耳 (80%) 渡槽扩大。 9 名患者双耳导水管增大，2 名患者仅一侧异常。结论：内耳畸形是 Pendred 综合征的常见表现。耳蜗缺陷和前庭扩大是彭德雷德综合征患者中最一致的异常现象。 (C) 北美放射学会，2005 年。
PURPOSE: To prospectively determine the structural anomalies of the inner ear by using thin-section computed tomography (CT) in an extended family wit Pendred syndrome.MATERIALS and METHODS: Ethics committee approved the study and informed consent was obtained from every patient or from parents of patients under legal age. Twelve patients (three females and nine males aged 7-47 years) with Pendred syndrome (all from the same ethnic isolate and with the same mutation in the PDS gene) were evaluated for inner-ear malformation at thin-section CT. Both ears were evaluated. Presence or absence of interscalar septum between upper and middle turns of the cochlea was evaluated, and vestibule and vesitbular aqueduct were examined for enlargement. Modiolus was determined to be present or absent (modiolar deficiency). CT scans were evaluated in consenus buy two radiologists (M.G., J.M.G.).RESULTS: All patients had inner ear malformation on both sides. Modiolus was absent and vestibule was enlarged on both sides in all 12- patients. Interscalar septum was absent in 18 (7%) of 24 ears. In eights patients, interscalar septum was absent in both ears, whereas in two patients, it was absent on only one side. Aqueduct was enlarged in 20 (80%) of 24 ears. In nine patients, both ears had enlarged aqueducts, while in two patients, only one side was abnormal.CONCLUSION: Inner ear malformation is an invariable finding in Pendred syndrome. Modiolus deficiency and vestibular enlargement were the most consistent anomalies in this population with Pendred syndrome. (C) RSNA, 2005.