Faculty Bibliography

Recent advances in the study of the genetic basis of hearing loss include the mapping of several nonsyndromic deafness genes and the cloning and characterization of several genes for syndromic deafness. It is now clear that some types of Usher syndrome are caused by a mutation in a gene for a myosin protein, that Jervall Lange Neilson syndrome is caused by a mutant gene for a potassium channel protein, and that the mutant gene underlying branchial-oto-renal syndrome is similar to the eyes absent gene in drosophila. These developments mark concrete progress towards understanding cochlear molecular physiology and towards the creation of clinically useful tests for inherited hearing loss

Two sisters presented to our medical center with nontraumatic cerebrospinal fluid (CSF) fistulas from left sphenoid sinocranial junction defects. One sister had recurrent meningitis over a 20-year period that prompted a skull base evaluation. Four years later, her younger sister presented with profuse CSF rhinorrhea. Transethmoid sphenoidotomy with sinus obliteration and lumbar-subarachnoid temporary CSF diversion successfully treated one sister, while the other required reoperation and permanent lumbar-peritoneal shunting. In both cases the skull base defect was identically located in the posterolateral left sphenoid sinus. Embryological considerations, evaluation and management are presented