Empirical development of improved diagnostic criteria for neurofibromatosis 2

Baser, Michael E.; Friedman, Jan M.; Joe, Harry; Shenton, Andrew; Wallace, Andrew; Ramsden, R. T.; Evans, D. Gareth

doi:10.1097/gim.0b013e318211faa9

Cited by 92 publications

(47 citation statements)

References 44 publications

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“…This is in contrast to sporadic vestibular schwannomas where hearing is not as significant an influence as imbalance or tinnitus [8]. This is mainly due to the bilaterality of hearing loss in patients with NF2 [5]. Hearing loss is usually of gradual onset although sudden sensorineural deafness is also possible [7,9,10].…”

Section: Introductionmentioning

confidence: 82%

“…Hearing loss is very common in NF2 and results from the vestibular schwannomas or their treatment. This has a greater impact on the decision making and quality of life than any other symptom [5][6][7][8][9][10]. This is in contrast to sporadic vestibular schwannomas where hearing is not as significant an influence as imbalance or tinnitus [8].…”

Section: Introductionmentioning

confidence: 98%

“…The diagnosis of NF2 is based on the guidelines of the National Institutes of Health Consensus Development Conference with the presence of bilateral vestibular schwannomas being its hallmark [3]. The diagnostic criteria have also been expanded recently with a new diagnostic scoring system [4,5]. The clinical presentation of NF2 is extremely variable, which makes comparison between patients very difficult and managing the affected individuals even more challenging [6].…”

Section: Introductionmentioning

confidence: 99%

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Progress of hearing loss in neurofibromatosis type 2: implications for future management

Kontorinis

Nichani²,

Freeman³

et al. 2014

Eur Arch Otorhinolaryngol

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The objective of this study was to describe changes in hearing over time in patients with neurofibromatosis type 2 (NF2) treated conservatively. A retrospective case review was conducted in a tertiary referral centre. Pure tone audiometry, speech discrimination scores, serviceable hearing (American Academy of Otolaryngology class A or B) and measurement of vestibular schwannoma (VS) size on magnetic resonance imaging were evaluated in 56 patients (89 ears) with NF2 with at least one conservatively managed VS. Over a mean follow-up period of 7 years (range 0.8-21 years) pure tone average thresholds increased gradually with a mean annual rate of 1.3 dB for the right ear (p = 0.0003) and 2 dB for the left ear (p = 0.0009). Speech discrimination scores dropped with an average annual rate of 1.3 and 0.34% in the right and left ear, respectively. Patients maintained serviceable hearing for an average of 7.6 years (range 2.7-19.3 years). The average annual VS growth was 0.4 mm without any correlation with hearing loss. There was a correlation between patients' age and pure tone threshold increase (p < 0.05 for both ears). In this selected population of patients with NF2, hearing threshold increases were very slow. In NF2 patients with indolently behaving tumours, serviceable hearing can be maintained for a significant length of time, making conservative management an attractive option.

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Section: Introductionmentioning

confidence: 82%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Progress of hearing loss in neurofibromatosis type 2: implications for future management

Kontorinis

Nichani²,

Freeman³

et al. 2014

Eur Arch Otorhinolaryngol

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show abstract

“…Le résultat de l'IRM cérébrale et rachidienne était même faussement rassurant à l'âge de 6 ans. Le nombre de points obtenus au score de Baser et al [8] ne moyenne d'âge au premier symptôme était de 6,08 ans (tableau III) [6,[9][10][11][12], une cataracte juvénile avait inauguré la maladie 6 fois (mais le pourcentage était de 8 à 17 % des cas dans 3 séries) et elle était présente par la suite chez plus de 35 des jeunes patients. La cataracte est très souvent asymptomatique contrairement aux rapports plus anciens [14], n'affectant l'acuité visuelle que chez seulement 20 % des patients et de façon légère [5,9,10] et apparaît avant le SV ou d'autres tumeurs [5,7,9,13].…”

Section: Discussionunclassified

“…Au moins 18 % des sujets voient leur maladie débuter dans la petite enfance [6] et, à la différence de ce que l'on observe chez l'adulte, les SV ne sont responsables chez l'enfant que d'un peu moins de 15 à 30 % des symptômes initiaux [1]. On conçoit ainsi toutes les difficultés du diagnostic de la NF2 qui repose sur le respect des critères du NIH (National Institutes of Health) proposés en 1987, secondairement modifiés par Evans et al [2], puis par Gutmann et al [7] (tableau I), et tout récemment par Baser et al [8] (tableau II). La présence d'une mutation constitutionnelle du gène NF2 (22q12) est inconstamment détectée dans le sang du fait de l'existence d'une fréquence élevée (20 à 30 %) de mosaïques constitutionnelles chez les cas isolés de novo [1].…”

Section: Introductionunclassified