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Genetic Disease Causes hearing loss

hese patients, 3 distinct mechanisms (either alone or in combination) may account for the audiovestibular [hearing and balance] morbidity associated with ELSTs.

These include direct invasion of the otic capsule [embryonic cartilage capsule that surrounds the inner ear mechanism and develops into bony tissue] by tumor, intralabyrinthine hemorrhage, and endolymphatic hydrops [recurrent vertigo accompanied by ringing in the ears and deafness].

Since significant audiovestibular dysfunction, including deafness, can occur suddenly in a manner that is not related to tumor size, early surgical intervention may be warranted.

While this study does not address the effectiveness of surgical resection, several small operative series indicate that complete resection of ELSTs can be curative, can alleviate vestibular symptomatology, and can be performed with hearing preservation and minimal morbidity.

Therefore, in patients with hearing and imaging evidence of an ELST, surgery may be considered after weighing its potential risks to prevent neurologic worsening or amelioration of symptoms.

To intervene early, prompt diagnosis based on clinical and imaging findings is necessary. Thus, serial clinical evaluations and high-resolution MRI and CT imaging to detect small ELSTs or intralabyrinthine hemorrhage are warranted in patients with VHL, the authors conclude.


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