Neurofibromatosis 2

Beschreibung

Notiz am Neurofibromatosis 2, erstellt von Ellie Quinn am 30/05/2014.
Ellie Quinn
Notiz von Ellie Quinn, aktualisiert more than 1 year ago
Ellie Quinn
Erstellt von Ellie Quinn vor mehr als 10 Jahre
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Zusammenfassung der Ressource

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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

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