Neurological features

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:

1. 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.
2. Hillier JC, Moskovic E. The soft-tissue manifestations of neurofibromatosis type 1.Clin Radiol 2005; 60 (9): 960-967