Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations
Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations
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DOI：
10.3174/ajnr.a3367
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发表时间：
2013-06-01
影响因子：
3.5
通讯作者：
Pingault, V.
中科院分区：
文献类型：
--
作者：
Elmaleh-Berges, M.;Baumann, C.;Pingault, V.
背景和目的：Waardenburg综合征以耳聋和色素异常为特征，临床和遗传异质性，包括4种不同的亚型，涉及多个基因。SOX 10突变已在2型和4型Waardenburg综合征和神经系统变异中发现。本研究的目的是评估这些patients.MATERIALS和方法：15例Waardenburg综合征和不同的SOX 10突变的全谱和相对频率的内耳畸形进行了回顾性研究。在2000年2月至2010年3月期间进行了成像，用于人工耳蜗植入检查、听力损失诊断和/或神经功能缺损评价。11例同时行CT和MR检查，3例仅行MR检查，1例仅行CT检查。最常见的模式与1个半规管发育不全或发育不全、前庭扩大和耳蜗尺寸缩小以及偶尔形状异常有关，但在13/15例可分析的病例中，耳蜗分区正常。3例患者缺乏耳蜗神经，2例患者双侧缺失。此外，当有足够的MR成像序列时，发现了相关的异常：嗅球发育不全（7/8），泪腺发育不全或缺失（11/14），腮腺发育不全（12/14）和白色信号异常（7/13）。在适当的临床背景下，双侧半规管发育不全或发育不全或两者兼有，伴有前庭扩大和耳蜗畸形，强烈提示与SOX 10突变相关的Waardenburg综合征的诊断。
BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients.MATERIALS AND METHODS: Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only.RESULTS: Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of 1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13).CONCLUSIONS: In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.