Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation

Abstract

Objective

This study aims to describe the clinical and molecular presentation of pediatric neurofibromatosis type 2 (NF2) and the subsequent management of vestibular schwannomas (VS) and hearing rehabilitation.

Methods

This is a single-center retrospective study of neurofibromatosis type 2 diagnosed before the age of 18 years old from 1997. Natural history of vestibular schwannomas and surgical outcomes were evaluated using volumetric MRI, hearing, and facial nerve assessment. Patients included in chemotherapy protocols were excluded.

Results

From a database of 80 patients followed up for NF2 on a regular basis, 25 patients were eligible (11 sporadic cases, 14 inherited in five families). The mean age at diagnosis was 11.6 years old. The average clinical follow-up was 6.5 years. NF2 mutation was identified in 81 % of the probands. The average growth rate based on the maximum linear diameter (DGR) was 1.68 mm/year (n = 33, average follow-up 4.22 years) and 545 mm3/year in volumetric assessment (VGR) for VS larger than 1 cm (n = 21, average follow-up 3.4 years). In unoperated ears, hearing was stable in about 50 % of ears. The mean change in dB HL was 9.5 dB/year for pure-tone average and 3.5 for speech-recognition threshold (n = 34, 5.5 years 1–12). Eight children required removal through a translabyrinthine approach (mean follow-up was 4.5 years), six patients were operated on for hearing preservation (mean postoperative follow-up 4.3 years). Six patients were eligible for hearing rehabilitation with cochlear implantation (I), and five received placement of an auditory brainstem implant.

Conclusion

Early diagnosis and treatment of small growing VS should be carefully discussed considering familial history and possible rehabilitation with a CI.

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Abbreviations

LOH:

Loss of heterozygocity

NF2:

Neurofibromatosis type 2

PSC:

Posterior subcapsular cataract

PTA:

Pure-tone average

SDS:

Speech-discrimination score

SRT:

Speech-recognition threshold

VS:

Vestibular schwannoma

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Acknowledgments

Authors’ contributions

Dr. Nicolas-Xavier Bonne conceptualized and designed the study, drafted the initial manuscript, and approved the final manuscript as submitted. Dr. Rabih Aboukais helped in data collection and approved the final manuscript as submitted. Dr. Marc Baroncini participated in data collection, reviewed and revised the manuscript, and approved the final manuscript as submitted. Dr. Audrey Hochart critically reviewed the manuscript and approved the final manuscript as submitted. Dr. Pierre Leblond critically reviewed the manuscript and approved the final manuscript as submitted. Dr. Franck Broly critically reviewed the manuscript and approved the final manuscript as submitted. Dr. Frederique Dubrulle critically reviewed the manuscript and approved the final manuscript as submitted. Pr. Jean-Paul Lejeune critically reviewed the manuscript and approved the final manuscript as submitted. Pr. Christophe Vincent supervised the work, critically reviewed the manuscript, and approved the final manuscript as submitted.

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Correspondence to Nicolas -Xavier Bonne.

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Bonne, N.X., Aboukais, R., Baroncini, M. et al. Pediatric neurofibromatosis type 2: clinical and molecular presentation, management of vestibular schwannomas, and hearing rehabilitation. Childs Nerv Syst 32, 2403–2413 (2016). https://doi.org/10.1007/s00381-016-3257-1

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Keywords

  • Neurofibromatosis type 2
  • Vestibular schwannoma
  • Middle fossa
  • Hearing préservation
  • Auditory brainstem implant