MedPix Video - Phakomatoses - Neurofibromatosis Type 2 (Wishart Disease)
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07/10/23
Demographics:
Birth Incidence: 1/25-50,000
Prevalence of NF2 is 1:60,000
Inheritance: Autosomal Dominant
Age at Presentation: Birth to 40's (peak in 20’s)
Sx at Presentation: Hearing loss from VS
Diagnostic Criteria: VIII masses
Chromosome Abnl.: 22q12.2
Cutaneous Findings: minimal (skin tags)
CNS Findings: Multiple Lesions; Inherited Mutation;Schwannoma; Meningioma; Ependymoma (intramedullary spinal cord)
Phenotype:
Vestibular Schwannoma ~ 100% by age 30
Spinal tumors ~ 67%
Meningioma 50-80%
Cataracts ~ 1/3
Peripheral Neuropathy
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