학술논문
Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.
Document Type
Article
Author
Halliday, Dorothy; Emmanouil, Beatrice; Vassallo, Grace; Lascelles, Karine; Nicholson, James; Chandratre, Saleel; Anand, Geetha; Wasik, Martin; Pretorius, Pieter; Evans, D. Gareth; Parry, Allyson; Axon, Patrick; Gair, Juliette; Smyth, Carolyn; Afridi, Shazia K; Obholzer, Rupert; Everett, Vanessa; Jarvis, Nicola; Henshaw, Kirsty; Hanemann, C Oliver
Source
Subject
*NEUROFIBROMATOSIS 2
*VESTIBULAR nerve
*ACOUSTIC neuroma
*SPINAL surgery
*PHENOTYPES
*
*
*
*
Language
ISSN
0009-9163
Abstract
Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England 1.0). Focal cortical dysplasia occurred in 26% group 3 and 4% 2A. A total of 48% of group 3 underwent ≥1 major intervention (intracranial/spinal surgery/Bevacizumab/radiotherapy) compared to 35% of 2A; with 23% group 3 undergoing spinal surgery (schwannoma/ependymoma/meningioma resection) compared to 4% of 2A. Mean age starting Bevacizumab was 12.7 in group 3 and 14.9 years in 2A. In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention. [ABSTRACT FROM AUTHOR]