X-linked stapes gusher syndrome is a genetic form of deafness with distinct radiographic features on temporal bone CT. Hypothalamic hamartoma is a congenital glioneuronal anomaly of the hypothalamus. We report a potential association between these two rare anomalies that, to our knowledge, has not been reported. Two brothers presented with sensorineural hearing loss and almost identical inner ear and hypothalamic abnormalities, consistent with a diagnosis of X-linked stapes gusher syndrome and hypothalamic hamartoma. Genetic testing revealed identical mutations in the POU3F4 gene associated with X-linked stapes gusher syndrome. Furthermore, multiple vestibular diverticula were seen in both brothers, which have also not been reported with X-linked stapes gusher syndrome. This case suggests that POU3F4 mediated X-linked stapes gusher syndrome may also lead to multiple vestibular diverticula and hypothalamic hamartoma and, therefore, brain magnetic resonance imaging (MRI) could be considered in patients presenting with these inner ear findings.

中文翻译：

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下丘脑错构瘤和内耳憩室与X连锁-骨古谢综合征-新的关联吗？

X连锁骨古谢氏综合征是耳聋的遗传形式，在颞骨CT上具有明显的放射学特征。下丘脑错构瘤是下丘脑的先天性胶质神经元异常。我们报告这两个罕见异常之间的潜在关联，据我们所知，尚未报告。两兄弟表现出感音神经性听力减退，内耳和下丘脑异常几乎相同，与X连锁pes骨古谢氏综合征和下丘脑错构瘤的诊断一致。基因测试显示与X连锁骨古谢氏综合征相关的POU3F4基因存在相同的突变。此外，在两个兄弟中均见到多个前庭憩室，也未报告X连锁骨古谢氏综合征。这个案例表明POU3F4介导的X连锁骨古谢氏综合征也可能导致多发前庭憩室和下丘脑错构瘤，因此，对于有这些内耳发现的患者，可以考虑进行脑磁共振成像（MRI）。