X-linked deafness with stapes gusher in females.

A 22-year-old woman presented with severe mixed hearing loss and a flow of cerebrospinal fluid in the middle ear during stapes surgery (stapes gusher). HRCT of the temporal bones showed characteristic abnormalities of the inner ear (bulbous dilatation of the lateral portion of the internal acoustic meatus with incomplete separation from the cochlea, and widening of the first part of the facial nerve canal) described in X-linked progressive mixed deafness with stapes gusher. The evaluation of the patient's family revealed a sister with the same clinical history and identical HRCT findings, and 11 normal male relatives. This is the first report with typical findings of this entity that affects only female members of a family, suggesting another type of inheritance.

[Congenital cerebrospinal fluid pressure labyrinth]. / Das angeborene Liquordrucklabyrinth.

The audiograms and CT scans of three children with a bilateral congenital mixed deafness are presented. Two children underwent an exploratory tympanotomy revealing a fixed stapes footplate: a perilymph gusher arose during platinotomy in both cases. The gusher was controlled successfully with a large fat graft in both children, and hearing remained unchanged. Two of the children were brothers: they had no other deformities except an enlarged fundus of the auditory canal on CT scans, and no clearly defined bony barrier to the vestibule, suggesting a cerebrospinal fluid fistula. Neither a patent nor an abnormal cochlear aqueduct could be detected in all three cases. It is likely that the three patients present an X-linked mixed deafness syndrome with fixation of the stapedial foot plate and perilymph gusher. A classification of congenital perilymph-CSF shunts is proposed.