Congenital X-linked Stapes Gusher Syndrome in an Infant

Abstract

Congenital X-linked deafness with stapes gusher is a rare, but well-known clinical entity with characteristic radiological features. Recognition of these findings is important as it changes the treatment course and precludes stapedectomy, which if done can lead to stapes gusher in these patients. We present the case of a nine-month-old male infant with hearing loss. CT scan showed typical radiological features of X-linked stapes gusher syndrome. In addition, the superior semicircular canals appeared dehiscent which could be due to immature ossification or less likely due to defective development as part of the disease. To the best of our knowledge this is the youngest patient prospectively identified by imaging in the English medical literature.