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A 20-year-old presents with hearing loss and tinnitus. MRI reveals bilateral vestibular schwannomas. She also has multiple meningiomas and a spinal ependymoma.
AD; NF2 gene (merlin/schwannomin, tumor suppressor)
- Bilateral vestibular schwannomas (hallmark, typically by age 30)
- Other schwannomas, meningiomas, ependymomas
- Juvenile posterior subcapsular cataracts
- Few if any café-au-lait spots
vs NF1: NF2 = tumors of nervous system, NF1 = café-au-lait + neurofibromas
- Diagnostic with bilateral vestibular schwannomas, or an affected first-degree relative plus a unilateral vestibular schwannoma or two other characteristic tumors (schwannoma, meningioma, ependymoma)
- Gadolinium-enhanced brain MRI (internal auditory canals) is the key imaging study; audiometry for hearing assessment
- Molecular testing of NF2 confirms the diagnosis and enables family/prenatal testing; note frequent mosaicism, which can lower blood-test detection
- Slit-lamp exam for juvenile posterior subcapsular cataracts
- Serial brain and spine MRI plus annual audiology to monitor tumor growth and hearing
- Bevacizumab can shrink vestibular schwannomas and improve hearing in selected patients
- Surgery or stereotactic radiosurgery for symptomatic or growing tumors; hearing preservation and auditory brainstem implants when indicated
- Manage at a multidisciplinary specialty center; genetic counseling for autosomal dominant inheritance
"NF2 = 2 eyes, 2 ears": Bilateral vestibular schwannomas (hearing loss) and posterior subcapsular cataracts (visual loss). "NF 2 has catworacts."
"Skin spots Twinkle (very light/hypopigmented) in NF type Two": NF2 may have a few hypopigmented cafe-au-lait spots (vs hyperpigmented in NF1), but not as many as NF1.
NF2 on chr 22: NF2 encodes merlin (schwannomin), a tumor suppressor on chromosome 22.