Department of Neurosurgery, University of Wisconsin, Madison, WI, USA
5.1 Case Presentation
A 26-year-old female presents with a tender mass in the left leg. She has noticed the mass for years; it has been slowly growing but is now more tender to the touch. She has a history of multiple craniotomies for tumor resections as well as multiple surgeries on her upper and lower extremities for tumor resections. Her father and her child have similar problems. She has residual hearing loss for which she has a cochlear implant, left facial palsy, left wrist drop , and left foot drop . She communicates by sign language.
The mass is on the inner aspect of the left lower leg. It is about 6 × 3 cm, firm, tender, and mobile from side to side with limited mobility craniocaudally. She has no sensation in the bottom of the foot or the dorsum of the foot. Plantar flexion is 3, TA 4+, EHL 2, eversion 2, and inversion 4. These are all stable residual deficits from her previous surgeries.
What syndrome does the patient have? Why?
What is the most likely diagnosis for the mass in the left leg? What structure is it associated with?
How do you want to work it up?
What is the treatment?
How would you counsel the patient?
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The patient has NF2 : She had bilateral vestibular schwannomas (Fig. 5.1A ), multiple intracranial meningiomas (Fig. 5.1B ), positive FH in a first-degree relative for NF2. The abnormality is on chromosome 22 . Manchester criteria for NF2 :
Bilateral vestibular schwannomas, OR
Unilateral vestibular schwannoma and family history of NF2 , OR
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