Neurofibromatosis Flashcards
What are the subtypes of Neurofibromatosis
NF1
NF2
Scwannomatosis
Some examples of characteristics needed for diagnosis of NF1 (2 are needed)
6 or more café au lait spots - 5mm before puberty, 15mm after
Optic glioma
2 or more Lish nodules
Skin-fold freckling
What genetic type is NF1?
Autosomal Dominant
17q11.2
What is Neurofibromin
GTPase activating protein (GAP)
Define NF2
Bilateral vestibular schwannomas (tumours in ears)
Multiple other tumors
What genetic makeup is NF2
Autosomal Dominant
Chromsome 22
What is Neurofibromatosis
A nervous system tumor-forming disease
What is Merlin “schwannomin”
A tumour suppressing protein in NF2
How do you diagnose probable NF2
Family history and unilateral vestibular schwannoma plus one of the following:
Glioma, Meningioma, Ependymoma, Posterior subcapsular cataract/cortical opacity
How is NF2 definitely diagnosed
Bilateral vestibular schwannoma
How to manage NF2?
Audiometry
Brainstem auditory evoked testing
MRI
Surgery
Stereotactic radiotherapy
What is schwannomatosis?
Tumours that grow on peripheral nerves, typically in the brachial plexus
In adults in their 30s
Where do tumours in NF1 grow
Peripheral nerves
Is NF1 AD or AR
AD
