neurological features
Last reviewed 08/2021
The neurological manifestations of type I neurofibromatosis include:
- increased incidence of peripheral nerve and CNS tumours, particularly:
- meningioma
- acoustic neuroma
- optic nerve glioma
- malignant
peripheral nerve sheath tumours (MPNST) (1,2)
- MPNST is the term now used to refer to malignant schwannomas, neurogenic sarcomas, malignant neurilemomas, neurofibrosarcomas and spindle cell sarcomas
- NF1 patients show an 8–13% lifetime risk of developing MPNSTs (1)
- MPNSTs in NF-1 have a male predilection and occur approximately a decade earlier than in the general population
- central nervous system tumours
- spinal root tumours with or without compression
- seizures
Reference:
- Frahm S et al. Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol of Dis 2004;16 (1): Pages 85-91.
- Hillier JC, Moskovic E. The soft-tissue manifestations of neurofibromatosis type 1.Clin Radiol 2005; 60 (9): 960-967