Neurofibromatosis

Question 1

What is inheritance of NFM I?

Answer 1

Genetic autosomal dominant condition

Question 2

What are the features of NFM I?

Answer 2

Neurofibromas- skin and peripheral nerves
Lisch nodules
Cafe au lait spots
Axillary freckling
CNS- brain tumours, seizures

Question 3

What investigations are done for NFM I?

Answer 3

Biopsy skin lesion
CT/MRI
Genetics

Question 4

What are the features of NFM II?

Answer 4

Bilateral vestibular schwannoma (acoustic neuroma)- hearing loss, tinnitus
Cataracts
Neurofibromas- skin, peripheral nerves
Meningioma in 50%