Options and strategies for hearing restoration in pediatric neurofibromatosis type 2
- PDF / 376,761 Bytes
- 7 Pages / 595.276 x 790.866 pts Page_size
- 42 Downloads / 161 Views
ANNUAL ISSUE PAPER
Options and strategies for hearing restoration in pediatric neurofibromatosis type 2 Hossein Mahboubi 1 & William H. Slattery III 1 & Gautam U. Mehta 1 & Gregory P. Lekovic 1 Received: 22 April 2020 / Accepted: 2 June 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose In this article, we will review the mechanisms and natural history of hearing loss in neurofibromatosis type 2 (NF2) and discuss the hearing outcomes with different rehabilitation options. Methods Review of the published literature. Results NF2 is a rare autosomal dominant syndrome characterized by vestibular schwannomas and other intracranial and spinal tumors. Bilateral vestibular schwannomas are the hallmark of the disease which occur in 90 to 95% of the patients. As a result, hearing loss will eventually occur in almost all NF2 patients. Deafness can occur from tumor progression or from treatment of vestibular schwannomas and is among the most debilitating aspects of NF2. A number of surgical and non-surgical rehabilitation options are available for these patients including cochlear and auditory brainstem implants. The audiologic outcomes with surgical rehabilitation options have been variable but most patients are able to achieve sound awareness and benefit from auditory cues in lip reading. Conclusion Early identification and treatment of NF2 patients can help in achieving better hearing outcomes in the pediatric population. An increasing number of NF2 patients are receiving open set word understanding with refinement in surgical techniques. Keywords Neurofibromatosis type 2 . Vestibular schwannoma . Hearing loss . Deafness . Cochlear implant . Auditory brainstem implant
Introduction Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome characterized by bilateral vestibular schwannomas in addition to multiple meningiomas, other cranial nerve tumors, and spinal tumors [1]. It is estimated that about 7% of vestibular schwannomas are related to NF2 and NF2 has a birth incidence of 1 in 25,000 [2]. Mutations of the NF2 gene on locus 22q12–2 are responsible for the tumor growth. This gene is known to code for a tumor suppressive protein named Merlin [3]. About 50% of those diagnosed with NF2 have no family history and are considered founder cases [4]. Certain mutation types such as nonsense or frame shift may result in
* Gregory P. Lekovic [email protected] 1
Division of Neurotology (HM and WHS) and Division of Neurosurgery (GUM and GPL), House Ear Institute, 2100 W 3rd Street, Suite 111, Los Angeles, CA 90057, USA
the more severe manifestations of the disease [5]. Due to the autosomal dominant nature of disease, NF2 patients that have children have a 50% risk of passing on the disease.
Clinical manifestations and diagnostic work up The 1997 National Institute of Health (NIH) Consensus Development Conference guidelines are one of the most commonly used criteria for diagnosis of NF2 (Table 1) [6]. Other criteria have also been introduced in the literature. The Manchester c
Data Loading...
