Neurofibromatosis Flashcards
1
Q
What is inheritance of NFM I?
A
Genetic autosomal dominant condition
2
Q
What are the features of NFM I?
A
Neurofibromas- skin and peripheral nerves Lisch nodules Cafe au lait spots Axillary freckling CNS- brain tumours, seizures
3
Q
What investigations are done for NFM I?
A
Biopsy skin lesion
CT/MRI
Genetics
4
Q
What are the features of NFM II?
A
Bilateral vestibular schwannoma (acoustic neuroma)- hearing loss, tinnitus
Cataracts
Neurofibromas- skin, peripheral nerves
Meningioma in 50%