Neurofibromatosis Type 2 Clinical Presentation

  • Author: Beth A Pletcher, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Sep 9, 2011
 

History

Because approximately half of affected persons represent new gene changes, family history is often negative, making diagnosis all the more difficult. Clinical diagnosis of neurofibromatosis type 2 (NF2) requires that an individual present with at least 1 of the 3 following disease indications:

  • Bilateral eighth nerve masses visualized on magnetic resonance imaging (MRI) scan, using thin cuts, with and without gadolinium and on axial and coronal views
  • First-degree relative with documented NF2 for an individual with a unilateral eighth nerve mass, imaged as already described
  • First-degree relative with documented NF2 for an individual with at least 2 of the following findings: meningioma, glioma, schwannoma, juvenile cataract
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Physical Examination

Unlike neurofibromatosis type 1 (NF1), which frequently is associated with a number of cutaneous diagnostic clues, NF2 is accompanied by few external signs.

Presenting symptoms include hearing loss, ringing in the ears, and balance problems associated with vestibular nerve lesions. Individuals at risk for NF2 should be screened carefully for early signs of hearing loss, motor or sensory changes, and visual deficits.

Optic nerve sheath meningiomas, while generally quite rare in children, may be a presenting sign of NF2.[3]

Cranial nerve palsies may stem from compression of adjacent nerves secondary to an expanding vestibular schwannoma or directly from nonvestibular cranial nerve schwannomas.

Differentiating clinically between the relatively common NF1 and the rare NF2 is occasionally problematic. Patients with NF2 almost never have a large number of cafe-au-lait spots (although in rare cases, 6 or more may be seen), whereas cafe-au-lait spots are numerous and ubiquitous in NF1. Neither axillary nor inguinal freckles are common occurrences in NF2.

Malignant transformation of benign growths is almost unheard of in NF2, unlike in NF1. However, individuals with either NF1 or NF2 can develop multiple subcutaneous lesions that may be clinically indistinguishable (see the images below). In NF2, these lesions most often are defined histologically as schwannomas or neurilemomas, while in NF1 these are defined histologically as neurofibromas. Subcutaneous neurofibromas are occasional findings in NF2.

Subcutaneous and cutaneous lesions in a young man Subcutaneous and cutaneous lesions in a young man with neurofibromatosis type 2; note paucity of cafe-au-lait spots. Right neck mass in a patient with neurofibromatosiRight neck mass in a patient with neurofibromatosis type 2. Facial asymmetry, OS proptosis, and exotropia, as Facial asymmetry, OS proptosis, and exotropia, as well as several subcutaneous lesions on the forehead and face, in a 20-year-old man with neurofibromatosis type 2. Posterior cervical scar from cord lesion resectionPosterior cervical scar from cord lesion resection, thoracic scoliosis, and subcutaneous masses in a young adult with neurofibromatosis type 2.

Posterior subcapsular lenticular opacities, even in childhood, would be suggestive of NF2, whereas Lisch nodules would be diagnostic of NF1. Finally, although individuals with either NF1 or NF2 can develop dumbbell-shaped spinal cord tumors, schwannomas are common in NF2, whereas neurofibromas are seen primarily in NF1.

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Contributor Information and Disclosures
Author

Beth A Pletcher, MD  Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey

Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

Additional Contributors

David A Griesemer, MD Professor, Departments of Neuroscience and Pediatrics, Medical University of South Carolina

David A Griesemer, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Neurology, American Epilepsy Society, Child Neurology Society, and Society for Neuroscience

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

References

  1. Hanemann CO. Magic but treatable? Tumours due to loss of merlin. Brain. Mar 2008;131:606-15. [Medline].

  2. Fisher LM, Doherty JK, Lev MH, et al. Distribution of nonvestibular cranial nerve schwannomas in neurofibromatosis 2. Otol Neurotol. Dec 2007;28(8):1083-90. [Medline].

  3. Lee HBH, Garrity JA, Cameron JD, Strianese D, Bonavolonta G, Patrinely JR. Primary optic nerve sheath meningioma in children. Surv Ophthalmol. 2008;53:543-58.

  4. Sestini R, Provenzano A, Bacci C, et al. NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis. Genet Test. Jun 2008;12(2):311-8. [Medline].

  5. Harris GJ, Plotkin SR, Maccollin M, et al. Three-dimensional volumetrics for tracking vestibular schwannoma growth in neurofibromatosis type II. Neurosurgery. Jun 2008;62(6):1314-9; discussion 1319-20. [Medline].

  6. Selch MT, Pedroso A, Lee SP, et al. Stereotactic radiotherapy for the treatment of acoustic neuromas. J Neurosurg. Nov 2004;101 Suppl 3:362-72. [Medline].

  7. Otto SR, Brackmann DE, Hitselberger W. Auditory brainstem implantation in 12- to 18-year-olds. Arch Otolaryngol Head Neck Surg. May 2004;130(5):656-9. [Medline].

  8. Kanowitz SJ, Shapiro WH, Golfinos JG, et al. Auditory brainstem implantation in patients with neurofibromatosis type 2. Laryngoscope. Dec 2004;114(12):2135-46. [Medline].

  9. Plotkin SR, Singh MA, O'Donnell CC, et al. Audiologic and radiographic response of NF2-related vestibular schwannoma to erlotinib therapy. Nat Clin Pract Oncol. Aug 2008;5(8):487-91. [Medline].

  10. Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd, et al. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med. Jul 23 2009;361(4):358-67. [Medline].

  11. Mukherjee J, Kamnasaran D, Balasubramaniam A, et al. Human schwannomas express activated platelet-derived growth factor receptors and c-kit and are growth inhibited by Gleevec (Imatinib Mesylate). Cancer Res. Jun 15 2009;69(12):5099-107. [Medline]. [Full Text].

  12. von Eckardstein KL, Beatty CW, Driscoll CL, Link MJ. Spontaneous regression of vestibular schwannomas after resection of contralateral tumor in neurofibromatosis Type 2. J Neurosurg. Jan 2010;112(1):158-62. [Medline]. [Full Text].

  13. Safavi-Abbasi S, Bambakidis NC, Zabramski JM, et al. Nonvestibular schwannomas: an evaluation of functional outcome after radiosurgical and microsurgical management. Acta Neurochir (Wien). Jan 2010;152(1):35-46. [Medline].

  14. Gerszten PC, Burton SA, Ozhasoglu C, McCue KJ, Quinn AE. Radiosurgery for benign intradural spinal tumors. Neurosurgery. Apr 2008;62(4):887-95; discussion 895-6. [Medline].

  15. Schwartz MS, Otto SR, Shannon RV, et al. Auditory brainstem implants. Neurotherapeutics. Jan 2008;5(1):128-36. [Medline].

  16. Colletti V, Shannon R, Carner M, Veronese S, Colletti L. Outcomes in nontumor adults fitted with the auditory brainstem implant: 10 years' experience. Otol Neurotol. Aug 2009;30(5):614-8. [Medline].

 
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Subcutaneous and cutaneous lesions in a young man with neurofibromatosis type 2; note paucity of cafe-au-lait spots.
Right neck mass in a patient with neurofibromatosis type 2.
Facial asymmetry, OS proptosis, and exotropia, as well as several subcutaneous lesions on the forehead and face, in a 20-year-old man with neurofibromatosis type 2.
Posterior cervical scar from cord lesion resection, thoracic scoliosis, and subcutaneous masses in a young adult with neurofibromatosis type 2.
Meningioma to the left of midline in a patient with neurofibromatosis type 2.
Multiple meningiomas (on the left) on the surface of the brain in a patient with neurofibromatosis type 2.
Bilateral acoustic neuromas in a patient with neurofibromatosis type 2.
Bilateral acoustic neuromas and a left-sided meningioma in a patient with neurofibromatosis type 2.
Small ependymoma in a patient with neurofibromatosis type 2.
Multiple meningiomas in a patient with neurofibromatosis type 2.
 
 
 
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