Genetic disorders of the nervous system, causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Between 30 and 50 percent of new cases arise spontaneously through mutation which can be passed on to succeeding generations.
(aka von Recklinghausen’s disease)
Clinical: (see figure) cafe au lait spots, deformed bones and usually starts at birth, more common of two types.
Radiologic Presentation: optic gliomas, benign hamartomas, hypoplastic sphenoid wing, plexiform neurofibromas, thin ribs
Clinical: hearing loss, ringing in the ears, poor balance, headache, facial pain, often starts in the teen years.
Radiologic Presentation: MISME (Multiple Intracranial Schwannomas, Meningiomas and Ependymomas), bilateral 8th nerve tumors, (remember NF2 = 2 scwannomas and chromosome 22).