Anderson Emily A, Özütemiz Can, Miller Bradley S, Moss Timothy J, Nascene David R
School of Medicine, University of Minnesota, 420 Delaware St. SE, Minneapolis, MN, 55455, USA.
Department of Radiology, University of Minnesota, Minneapolis, MN, USA.
Pediatr Radiol. 2020 Jan;50(1):142-145. doi: 10.1007/s00247-019-04497-z. Epub 2019 Aug 22.
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.
X连锁镫骨井喷综合征是一种遗传性耳聋，颞骨CT具有独特的影像学特征。下丘脑错构瘤是下丘脑的一种先天性神经胶质神经元异常。我们报告了这两种罕见异常之间的潜在关联，据我们所知，此前尚未有相关报道。两名兄弟出现感音神经性听力损失，内耳和下丘脑异常几乎相同，符合X连锁镫骨井喷综合征和下丘脑错构瘤的诊断。基因检测发现与X连锁镫骨井喷综合征相关的POU3F4基因存在相同突变。此外，两名兄弟均可见多个前庭憩室，X连锁镫骨井喷综合征也未见相关报道。该病例提示，POU3F4介导的X连锁镫骨井喷综合征可能还会导致多个前庭憩室和下丘脑错构瘤，因此，对于出现这些内耳表现的患者，可考虑进行脑磁共振成像（MRI）检查。
