Neurofibromatosis Flashcards

1
Q

What is inheritance of NFM I?

A

Genetic autosomal dominant condition

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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
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3
Q

What investigations are done for NFM I?

A

Biopsy skin lesion
CT/MRI
Genetics

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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%

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