Neurofibromatosis

Question 1

What is neurofibromatosis?

Answer 1

A genetic condition that causes neuromas to develop throughout the nervous system

Question 2

What is the inheritance pattern of neurofibromatosis?

Answer 2

Autosomal dominant

Question 3

What chromsome is the NF type 1 gene found on?

Answer 3

Chromosome 17

Question 4

What does the NF type 1 gene code for?

Answer 4

Neurofibromin protein, which is a tumour suppressor protein

Question 5

What are the signs and symptoms of neurofibromatosis type 1?

Answer 5

CRABBING
C- cafe au lait spots
R - relative with NF1
A - axillary or inguinal freckles
B - bony dyplsasia
B - bowing of a long bone
I - 2 or more Iris hamartomas (yellow brown spots on the eye)
N - neurofibromas
G - glioma of optic nerve

Question 6

What investigations can be helpful in the diagnosis of NF1?

Answer 6

CT and MRI to investigate lesions
XR for bone pain and lesions
Genetic testing

Question 7

What are the complications of NF1?

Answer 7

Renal artery stenosis
Malignant peripheral nerve sheath tumours
GI stromal tumour
Brain tumours
Vision loss
Migraine
Epilepsy
Learning disability

Question 8

Where is the NF2 gene found?

Answer 8

Chromosome 22

Question 9

What does the NF2 gene encode for?

Answer 9

Merlin protein - tumour suppressor protein that is important in schwann cells

Question 10

What is neurofibromatosis type 2 most associated with?

Answer 10

Acoustic neuroma

Question 11

What are the symptoms of acoustic neuroma?

Answer 11

Hearing loss
Tinnitus
Balance problems