Neurofibromatosis

Question 1

Which flavour of NFM features peripheral schwannomas?

Answer 1

NF2

Question 1

Which flavour of NFM features bilateral acoustic neuromas?

Answer 1

NF2

Question 2

Which flavour of NFM features peripheral neurofibromas?

Answer 2

NF1

Question 3

Which flavour of NFM features lens opacities / cataracts?

Answer 3

NF2

Question 4

Which flavour of NFM features leisch nodules of iris?

Answer 4

NF1

Question 5

Which flavour of NFM features Axilliary freckling?

Answer 5

NF1

Question 6

What is the number of Cafe au Lait spot which differentiates between the Neurofibromatoses?

Answer 6

> 6 NF1
<6 NF2

Question 7

What are the minor features of the Neurofibromas?

Answer 7

NF1 = macrocephaly, short
NF2 = <6 cafe au lait, peripheral neurofibromas

Question 8

Which gene is affected causing NF1?

Answer 8

Ch 17

Question 9

Which gene is affected causing NF2?

Answer 9

Ch 22

Question 10

Which complication feature is only really seen in NF2?

Answer 10

Deafness / vertigo / tinnitus

(vestibular schwannomas)

Question 11

Name 5 common complication features of NF1

Answer 11

Plexiform neruomas
Optic gliomas
Spinal / cranial tumours
Renal artery stenosis
Phaeochromocytomas
LD

Spinal nerve compressions (NF2)
Malignant change/sarcomas (NF2)