Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity.

Clin Genet 2019 Aug 29;96(2):151-162. Epub 2019 Apr 29.

Oxford NF2 Unit, Oxford University Hospitals NHS Trust, Oxford, UK.

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.

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13551
Publisher Site
http://dx.doi.org/10.1111/cge.13551DOI Listing

Still can't find the full text of the article?

We can help you send a request to the authors directly.
August 2019
18 Reads

Publication Analysis

Top Keywords

neurofibromatosis type
8
group
5
group total
4
group 149 years
4
26% group
4
total 48%
4
48% group
4
bevacizumab 127
4
group underwent
4
127 group
4
underwent ≥1
4
conclusion group
4
focal cortical
4
group phenotype
4
cortical dysplasia
4
149 years conclusion
4
occurred 26%
4
dysplasia occurred
4
children england
4
≥1 major
4

References

(Supplied by CrossRef)
Schwannomatosis: a genetic and epidemiological study
Evans DG et al.
J Neurol Neurosurg Psychiatry 2018
A clinical study of type 2 neurofibromatosis
Evans DGR et al.
QJM 1992
Neurofibromatosis 2 in the pediatric age group
Mautner VF et al.
Neurosurgery 1993
The diagnosis and management of neurofibromatosis 2 in childhood
MacCollin M et al.
Semin Pediatr Neurol 1998
Paediatric presentation of type 2 neurofibromatosis
Evans DG et al.
Arch Dis Child 1999

Similar Publications