Y4 Neurofibromatosis

Question 1

how many types of neurofibromatosis is there?

Answer 1

2 types

Question 2

what chromosome is type 1 on?

Answer 2

AD Chr 17

Question 3

what chromosome is type 2 on?

Answer 3

AD Chr 22

Question 4

what are the features of type 1? CAFÉ NOIR

Answer 4

cafe au lait spots 
axillary freckling (in skin folds)
fibromas 
eye 
Neoplasia
orthopaedics (Kyphoscoliosis)
IQ reduced 
Renal (renal artery stenosis increases BP)

Question 5

what conditions with the eye can someone with type 1 have ?

Answer 5

Lisch nodules
􏰁- Brown/translucent iris hamartomas 􏰁with a slit lamp
Optic N. glioma

Question 6

with what four conditions have cafe au lait spots ?

Answer 6

NF
􏰀McCune-Albright
􏰀Multiple Lentigenes
􏰀Urticaria Pigmentosa

Question 7

what is the other name of acoustic neuromas?

Answer 7

Vestibular Schwannomas

Question 8

what neoplasm is seen in type 1?

Answer 8

CNS: meningioma, ependyoma, astrocytoma

􏰀 Phaeochromocytoma

Question 9

what neoplasm is seen in type 2 ?

Answer 9

Bilateral Vestibular Schwannomas

Meningiomas

Question 10

what monitoring is done for type 2 NF?

Answer 10

hearing tests from puberty to check for vestibular schwannomas

Question 11

what is the survival time of type 2 NF?

Answer 11

Mean survival from Dx is 15yrs