neurofibromatosis Flashcards
1
Q
what
A
genetic condition causing neuromas to develop throughout NS
2
Q
NF1 - gene
A
chr 17
codes for protein neurofibromin which is tumour suppresing gene
3
Q
NF1 - inheritance
A
autosomal dominant
4
Q
NF1 - criteria
A
Cafe au lait spots (6+) Relative with NF1 axillary or inguinal freckles Bony dysplasia Iris haratomas (lisch nodules) Neurofibromas (2+) glioma of optic nerve
5
Q
NF1 -Diagnoses
A
criteria at least 2 features
6
Q
NF1 - Mx
A
no treatment
control Sx, monitor disease, treat complications
7
Q
NF1 complications
A
migraines epilepsy renal a stenosis --> htn scoliosis vision loss malignant peripheral nerve sheath tumours GI stromal tumour brain tumour SC tumour inc risk cancer leukaemia
8
Q
NF2 - gene
A
chromosome 22
protein called merlin - tumour suppressor protein
9
Q
NF2
A
mutation in gene leads to development of schwannomas
10
Q
NF2 - inheritcance
A
autosomal dominant
11
Q
NF2 - symptoms
A
most assoc with acoustic neuroma
- hearing loss
- tinnitus
- balance problems
12
Q
NF2 - Mx
A
surgery can be used to resect
13
Q
bilateral acoustic neuroma usually indicate
A
NF2
