Neurofibromatosis 2

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1 in 25,000

Average age of onset 18-24 years

Bilateral vestibular schwannomas (almost all by age 30)>

tinnitus, hearing loss and balance dysfunction (90% eventually become deaf)

Schwannomas of other nerves and sometimes astrocytomas –

spinal common

Meningioma – brain tumour

Lens opacities

In childhood:

Persistent facial palsy

Squint

Hand/foot droop

Some can develop neurofibromas, but not all

Deep tumours can cause pain

Bilateral vestibular schwannomas

A first-degree relative with NF2 AND Unilateral

vestibular schwannoma OR Any two of: meningioma, schwannoma,

glioma, neurofibroma, posterior subcapsular lenticular opacities *

Unilateral vestibular schwannoma AND any

two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular

lenticular opacities *

Multiple meningiomas AND Unilateral vestibular

schwannoma OR Any two of: schwannoma, glioma, neurofibroma,

cataract

Genetic testing:

De novo - Look at tumour DNA - has there been knock-out of the two NF2 alleles

Inherited - look at leukocyte DNA

After diagnosis:

MRI scan

Hearing evaluation

Ophthalmologic evaluation

Cutaneous examination

Genetics Appointment

Treatment:

Can surgically remove vestibular schwannomas but risk facial

paralysis

Hearing – support with lip reading skills and sign language,

hearing aids, cochlear implant

Surveillance:

Annual MRI

Hearing evaluation

Inheritance:

Autosomal dominant

Consider molecular genetic testing of at-risk family members

(children) so that surveillance can begin

50% inherited 50% de novo

25% - 33% de novo cases are mosaic

Possibility of germline mosaicism in parents

CLINICAL DESCRIPTION

DIAGNOSIS

TREATMENT

INHERITANCE