Neurofibromatosis Flashcards
1
Q
What is neurofibromatosis?
A
Genetic condition that causes nerve tumours (neuromas) to develop throughout the nervous system
2
Q
Which type of neurofibromatosis is more common?
A
Neurofibromatosis Type 1
3
Q
Mutation in neurofibromatosis type 1
A
NF1 gene mutation
4
Q
Mutation in neurofibromatosis type 2
A
NF2 gene mutation
5
Q
What symptoms need to be present for NF1 diagnosis?
A
At least 2/7 for diagnosis Cafe-au-lait macules Relative with NF1 Axillary or inguinal freckles BBony dysplasia (bowing of a long bone or sphenoid wing dysplasia) Iris hamartomas (Lisch nodules) Neurofibromas (2+ or 1 plexiform) Glioma of the optic nerve (some patients also have learning difficulties
6
Q
Treatment of NF1
A
Aim: symptom control, monitoring and treating complications
MEK inhibitors can be used
7
Q
Presentation of NF2
A
Cataracts Vestibular schwannoma (acoustic neuroma)
