Neurofibromatosis Flashcards
1
Q
What is neurofibromatosis?
A
A genetic condition which causes nerve tumours to develop through the nervous system
2
Q
What are the 2 types of neurofibromatosis?
A
Type 1 - more common
Type 2
3
Q
What is the pathophysiology of NF1?
A
- Gene found on chromosome 17
- Codes for a protein called neurofibromin
- Autosomal dominant
4
Q
How does neurofibromatosis present?
A
Cafe-au-lait spots
Relative with NF1
Axillary/Inguinal freckling
Bony dysplasia
Iris hamartomas (yellow-brown spots on iris)
Neurofibroma
Glioma of the optic pathway
5
Q
How is NF1 managed?
A
- No specific treatment
- Monitoring, managing symptoms and treating complications
6
Q
What are some complications of NF1?
A
- Malignant peripheral nerve sheath
- GI stromal tumours
- Epilepsy
- Learning disability
7
Q
What is the pathophysiology of NF2?
A
- Gene found on chromosome 22
- Codes for a protein called merlin which leads to schwannomas
- Autosomal dominant
8
Q
What is NF2 associated with?
A
Bilateral acoustic neuroma
