Neurology 15 - Neurofibromatosis + Tuberous Sclerosis

Question 1

what is neurofibromatosis?

Answer 1

2 conditions where benign nerve tumours develop throughout the nervous system, potentially causing structural + neurological problems

Question 2

type 1 vs type 2 NF

Answer 2

NF1 more common, neurofibromin protein affected (it is a tumour suppressor)

NF2 merlin protein, TS for Schwann cells

both dominant inheritance

Question 3

criteria for diagnosing neurofibromatosis

Answer 3

need at least 2 of 7

cafe au lait spots
iris hamartomas (Lisch nodules)
axiallary/inguinal freckles
relative with NF

bony dysplasia, long bone bowing
neurofibromas
glioma of optic nerve

Question 4

complications of neurofibromatosis 1

Answer 4

retinal artery stenosis
malignant peripheral nerve sheath tumours
GI stromal tumour

Question 5

complications of NF2

Answer 5

acoustic neuromas

Schwannomas elsewhere in NS

Question 6

‘bilateral acoustic neuromas’

Answer 6

neurofibromatosis type 2

Question 7

what is tuberous sclerosis?

Answer 7

hamartomas growing systemically in any organ

Question 8

skin signs for tuberous sclerosis

Answer 8

ash leaf spots
Shagreen patches (thickened, dimpled, pigmented patch of skin)
angiofibromas
subungual fibromata
cafe au lait spots
poliosis (isolated patch of white hair on head)

Question 9

classic presentation of tuberous sclerosis

Answer 9

child presenting with epilepsy with skin features of TS

can also present in adulthood

may also have smooth muscle cell tumours in lungs causing SOB, pain, blood etc