PDF(Pubmed)
Abstract：
Chudley-McCullough syndrome (CMS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss and cerebral abnormalities, including ventriculomegaly and partial dysgenesis of the corpus callosum. CMS is caused by two inactivating mutations of the G protein signaling modulator 2 (GPSM2), which maintains inner hair cell polarity and spindle orientation. Since its initial description, CMS has been reported approximately 30 times in the medical literature with several individuals undergoing cochlear implantation to restore their hearing. Interestingly, within the past two years, we encountered two cases of CMS in our hospital, which primarily serves patients within a 30-mile radius. To our knowledge, the literature has yet to evaluate two unrelated cases of CMS occurring in such close succession. This case report describes two successful cases of bilateral cochlear implantation in two children with CMS. Notably, these individuals have no family history of consanguinity or prior hearing loss.
摘要：
Chudley-McCullough综合征（CMS）是一种罕见的常染色体隐性遗传疾病，其特征是感觉神经性听力损失和大脑异常，包括脑室肿大和call体的部分发育不全。CMS是由G蛋白信号调节因子2（GPSM2）的两个失活突变引起的，保持内部毛细胞极性和纺锤体方向。自从最初描述以来，CMS在医学文献中已经报道了大约30次，其中有几个人进行了人工耳蜗植入以恢复听力。有趣的是,在过去的两年里，我们医院遇到了两例CMS，主要服务于半径30英里内的病人.据我们所知,文献尚未评估如此紧密连续发生的两个无关的CMS病例。该病例报告描述了两名CMS患儿双侧人工耳蜗植入的两例成功病例。值得注意的是,这些人没有血缘或听力损失的家族史。
