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Cochlear Implant Successful in Patient with Rare Genetic Disease

June 12th, 2007 Tim Odell Surgery

Researchers at Georgetown University Medical Center and the NIH have successfully restored hearing in a patient with von Hippel-Landau disease. For those that didn’t follow the link, it’s a genetic disease in which non-malignant tumors form throughout the body, including the eyes, brain or ears…

“Based on our understanding of how these tumors affect the inner ear, we felt that a cochlear implant could work, and it did,” said the study’s lead author, H. Jeffrey Kim, M.D., an assistant professor in the Department of Otolaryngology – Head and Neck Surgery, and a part-time investigator at the NIH, where the surgery was performed. Two years after the surgery, the implant has significantly improved the quality of life of the patient, he said.
Based on this successful surgery, which was published as a case report in the May issue of the journal Otology & Neurology, patients with von Hippel-Lindau disease with hearing loss may be now be candidates for a cochlear implant, Kim said. The disease, caused by inheritance of a mutated tumor suppressor gene, occurs in 1 out of 36,000 live births, and about 30 percent of these patients develop tumors in their ears – often in both. To date, the only option to help control these tumors is repeated surgery, which is often not successful, he said. Loss of hearing is sudden, and hearing aids don’t help, Kim said.

They’ve published their research in the latest issue of the Journal of Otology and Neurology as a case report.
More from the press release…

Tim Odell

Tim Odell started with Medgadget in 2005 while in graduate school at the University of Southern California. He prided himself on his irreverent tone and Pseudoscience Fridays series. After graduating in 2007, he began his career as a biomedical engineer with a Bioness, a neurorehabilitation start up, then moved on to Stryker in 2011.

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