Document Detail

Congenital X-linked Stapes Gusher Syndrome in an Infant. A Case Report.
MedLine Citation:
PMID:  24028879     Owner:  NLM     Status:  In-Data-Review    
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.
T J Eluvathingal Muttikkal; M Nicolasjilwan
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Publication Detail:
Type:  Journal Article     Date:  2012-03-01
Journal Detail:
Title:  The neuroradiology journal     Volume:  25     ISSN:  1971-4009     ISO Abbreviation:  Neuroradiol J     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2013-09-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101295103     Medline TA:  Neuroradiol J     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  76-80     Citation Subset:  -    
Radiology Department, University of Virginia; Charlottesville, Virginia, USA -
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