title: 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.
  
  
  CONCLUSIONS
  Early diagnosis and treatment of small growing VS should be carefully discussed considering familial history and possible rehabilitation with a CI.
authors.affiliation: Department of Otology and Neurotology, CHRU de Lille, 59037, Lille, France. nicolas.bonne@chru-lille.fr.
authors.forename: Nicolas -Xavier
authors.initials: N-
authors.lastname: Bonne
authors.affiliation: Department of Neurosurgery, CHRU de Lille, 59037, Lille Cedex, France.
authors.forename: Rabih
authors.initials: R
authors.lastname: Aboukais
authors.affiliation: Department of Neurosurgery, CHRU de Lille, 59037, Lille Cedex, France.
authors.forename: Marc
authors.initials: M
authors.lastname: Baroncini
authors.affiliation: Department of Pediatric Oncology, Centre Oscar Lambret, 59000, Lille, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Hochart
authors.affiliation: Department of Pediatric Oncology, Centre Oscar Lambret, 59000, Lille, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Leblond
authors.affiliation: Department of Genetic, CHRU de Lille, Lille Cedex, France.|Service de Toxicologie, Génopathies, CHRU Lille, Lille, France.
authors.forename: Franck
authors.initials: F
authors.lastname: Broly
authors.affiliation: Department of Radiology, Hôpital Huriez, CHRU Lille, Lille, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Dubrulle
authors.affiliation: Department of Neurosurgery, CHRU de Lille, 59037, Lille Cedex, France.
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Lejeune
authors.affiliation: Department of Otology and Neurotology, CHRU de Lille, 59037, Lille, France.
authors.forename: Christophe
authors.initials: C
authors.lastname: Vincent
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D012048:Correction of Hearing Impairment / Q000379:methods*; D005260:Female; D006320:Hearing Tests; D006801:Humans; D008297:Male; D016518:Neurofibromatosis 2 / Q000150:complications*; D009464:Neuroma, Acoustic / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy*; D012189:Retrospective Studies
keywords: Auditory brainstem implant; Hearing préservation; Middle fossa; Neurofibromatosis type 2; Vestibular schwannoma