eMedicine Specialties > Neurology > Pediatric Neurology

Neurofibromatosis, Type 1: Multimedia

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
Contributor Information and Disclosures

Updated: Dec 10, 2008

Multimedia

Café-au-lait spots in a 4-year-old boy.Media file 1: Café-au-lait spots in a 4-year-old boy.
Café-au-lait spots in a 4-year-old boy.

Café-au-lait spots in a 4-year-old boy.

Axillary freckles.Media file 2: Axillary freckles.
Axillary freckles.

Axillary freckles.

Inguinal freckles.Media file 3: Inguinal freckles.
Inguinal freckles.

Inguinal freckles.

Multiple neurofibromas in a 28-year-old man.Media file 4: Multiple neurofibromas in a 28-year-old man.
Multiple neurofibromas in a 28-year-old man.

Multiple neurofibromas in a 28-year-old man.

Plexiform neurofibroma of the right thigh.Media file 5: Plexiform neurofibroma of the right thigh.
Plexiform neurofibroma of the right thigh.

Plexiform neurofibroma of the right thigh.

Lisch nodules.Media file 6: Lisch nodules.
Lisch nodules.

Lisch nodules.

Radial and ulnar bowing and obliteration of the i...Media file 7: Radial and ulnar bowing and obliteration of the intramedullary spaces.
Radial and ulnar bowing and obliteration of the i...

Radial and ulnar bowing and obliteration of the intramedullary spaces.

Unidentified bright object (UBO) within the brain...Media file 8: Unidentified bright object (UBO) within the brain parenchyma.
Unidentified bright object (UBO) within the brain...

Unidentified bright object (UBO) within the brain parenchyma.

Left optic nerve glioma with thickening of the ne...Media file 9: Left optic nerve glioma with thickening of the nerve and proptosis.
Left optic nerve glioma with thickening of the ne...

Left optic nerve glioma with thickening of the nerve and proptosis.

Below-the-knee amputation for tibial pseudarthros...Media file 10: Below-the-knee amputation for tibial pseudarthrosis.
Below-the-knee amputation for tibial pseudarthros...

Below-the-knee amputation for tibial pseudarthrosis.

The young woman pictured here has a plexiform neu...Media file 11: The young woman pictured here has a plexiform neurofibroma of the eyelid.
The young woman pictured here has a plexiform neu...

The young woman pictured here has a plexiform neurofibroma of the eyelid.

More on Neurofibromatosis, Type 1

Overview: Neurofibromatosis, Type 1
Differential Diagnoses & Workup: Neurofibromatosis, Type 1
Treatment & Medication: Neurofibromatosis, Type 1
Follow-up: Neurofibromatosis, Type 1
Multimedia: Neurofibromatosis, Type 1
References

References

  1. Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet. Dec 2 1996;66(1):7-10. [Medline].

  2. Darrigo LG Jr, Geller M, Bonalumi Filho A, et al. Prevalence of plexiform neurofibroma in children and adolescents with type I neurofibromatosis. J Pediatr (Rio J). Nov-Dec 2007;83(6):571-3. [Medline].

  3. Rodriguez FJ, Perry A, Gutmann DH, et al. Gliomas in neurofibromatosis type 1: a clinicopathologic study of 100 patients. J Neuropathol Exp Neurol. Mar 2008;67(3):240-9. [Medline].

  4. Brunetti-Pierri N, Doty SB, Hicks J, et al. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. May 2008;94(1):105-11. [Medline].

  5. Stevenson DA, Schwarz EL, Viskochil DH, et al. Evidence of increased bone resorption in neurofibromatosis type 1 using urinary pyridinium crosslink analysis. Pediatr Res. Jun 2008;63(6):697-701. [Medline].

  6. Karagiannis A, Mikhailidis DP, Athyros VG, et al. Pheochromocytoma: an update on genetics and management. Endocr Relat Cancer. Dec 2007;14(4):935-56. [Medline].

  7. Lenders JW, Pacak K, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: which test is best?. JAMA. Mar 20 2002;287(11):1427-34. [Medline].

  8. Iannicelli E, Rossi G, Almberger M, et al. Integrated imaging in peripheral nerve lesions in type 1 neurofibromatosis. Radiol Med (Torino). Apr 2002;103(4):332-43. [Medline].

  9. Pacak K, Eisenhofer G, Ahlman H, et al. Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005. Nat Clin Pract Endocrinol Metab. Feb 2007;3(2):92-102. [Medline].

  10. Levine E, Huntrakoon M, Wetzel LH. Malignant nerve-sheath neoplasms in neurofibromatosis: distinction from benign tumors by using imaging techniques. AJR Am J Roentgenol. Nov 1987;149(5):1059-64. [Medline].

  11. Wojtkowiak JW, Fouad F, LaLonde DT, et al. Induction of apoptosis in neurofibromatosis type 1 malignant peripheral nerve sheath tumor cell lines by a combination of novel farnesyl transferase inhibitors and lovastatin. J Pharmacol Exp Ther. Jul 2008;326(1):1-11. [Medline].

  12. Ambrosini G, Cheema HS, Seelman S, et al. Sorafenib inhibits growth and mitogen-activated protein kinase signaling in malignant peripheral nerve sheath cells. Mol Cancer Ther. Apr 2008;7(4):890-6. [Medline].

  13. Johansson G, Mahller YY, Collins MH, et al. Effective in vivo targeting of the mammalian target of rapamycin pathway in malignant peripheral nerve sheath tumors. Mol Cancer Ther. May 2008;7(5):1237-45. [Medline].

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

  15. Bravo EL, Tagle R. Pheochromocytoma: state-of-the-art and future prospects. Endocr Rev. Aug 2003;24(4):539-53. [Medline].

  16. AAP Committee on Genetics. Health supervision for children with neurofibromatosis. American Academy of Pediatrics Committee on Genetics. Pediatrics. Aug 1995;96(2 Pt 1):368-72. [Medline].

  17. Chander S, Westphal SM, Zak IT, et al. Retroperitoneal malignant peripheral nerve sheath tumor: evaluation with serial FDG-PET. Clin Nucl Med. Jul 2004;29(7):415-8. [Medline].

  18. DeClue JE, Cohen BD, Lowy DR. Identification and characterization of the neurofibromatosis type 1 protein product. Proc Natl Acad Sci U S A. Nov 15 1991;88(22):9914-8. [Medline].

  19. Deliganis AV, Geyer JR, Berger MS. Prognostic significance of type 1 neurofibromatosis (von Recklinghausen Disease) in childhood optic glioma. Neurosurgery. Jun 1996;38(6):1114-8; discussion 1118-9. [Medline].

  20. Denckla MB, Hofman K, Mazzocco MM, et al. Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet. Feb 16 1996;67(1):98-102. [Medline].

  21. Drouet A, Wolkenstein P, Lefaucheur JP, et al. Neurofibromatosis 1-associated neuropathies: a reappraisal. Brain. Sep 2004;127:1993-2009. [Medline].

  22. Evans DG, Baser ME, McGaughran J, et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. May 2002;39(5):311-4. [Medline].

  23. Ferner RE, Hughes RA, Hall SM, et al. Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). J Med Genet. Nov 2004;41(11):837-41. [Medline].

  24. Gutmann DH, Collins FS. The neurofibromatosis type 1 gene and its protein product, neurofibromin. Neuron. Mar 1993;10(3):335-43. [Medline].

  25. Habiby R, Silverman B, Listernick R, et al. Precocious puberty in children with neurofibromatosis type 1. J Pediatr. Mar 1995;126(3):364-7. [Medline].

  26. Hughes RJ, Scoble JE, Reidy JF. Renal angioplasty in non-atheromatous renal artery stenosis: technical results and clinical outcome in 43 patients. Cardiovasc Intervent Radiol. Sep-Oct 2004;27(5):435-40. [Medline].

  27. Karadimas P, Hatzispasou E, Bouzas EA. Retinal vascular abnormalities in neurofibromatosis type 1. J Neuroophthalmol. Dec 2003;23(4):274-5. [Medline].

  28. Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85. [Medline].

  29. Levy AD, Patel N, Abbott RM, et al. Gastrointestinal stromal tumors in patients with neurofibromatosis: imaging features with clinicopathologic correlation. AJR Am J Roentgenol. Dec 2004;183(6):1629-36. [Medline].

  30. Listernick R, Ferner RE, Piersall L, et al. Late-onset optic pathway tumors in children with neurofibromatosis 1. Neurology. Nov 23 2004;63(10):1944-6. [Medline].

  31. Nakakura S, Shiraki K, Yasunari T, et al. Quantification and anatomic distribution of choroidal abnormalities in patients with type I neurofibromatosis. Graefes Arch Clin Exp Ophthalmol. Oct 2005;243(10):980-4. [Medline].

  32. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. May 1988;45(5):575-8. [Medline].

  33. North KN, Riccardi V, Samango-Sprouse C, et al. Cognitive function and academic performance in neurofibromatosis. 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology. Apr 1997;48(4):1121-7. [Medline].

  34. Riccardi VM. Neurofibromatosis. In: Phenotype, Natural History and Pathogenesis. 2nd ed. Johns Hopkins University Press; 1992.

  35. Scott RM, Smith JL, Robertson RL, Madsen JR, Soriano SG, Rockoff MA. Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg. Feb 2004;100(2 Suppl Pediatrics):142-9. [Medline].

  36. Solomon J, Warren K, Dombi E, et al. Automated detection and volume measurement of plexiform neurofibromas in neurofibromatosis 1 using magnetic resonance imaging. Comput Med Imaging Graph. Jul 2004;28(5):257-65. [Medline].

  37. Zacharia TT, Jaramillo D, Poussaint TY, et al. MR imaging of abdominopelvic involvement in neurofibromatosis type 1: a review of 43 patients. Pediatr Radiol. Mar 2005;35(3):317-22. [Medline].

  38. Zöller M, Rembeck B, Akesson HO, et al. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1. A twelve-year follow-up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol. Mar 1995;75(2):136-40. [Medline].

Further Reading

Keywords

neurofibromatosis type 1, classic neurofibromatosis, NF1, von Recklinghausen disease

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.

Medical Editor

Ann M Neumeyer, MD, Clinic Director, Instructor, Departments of Neurology and Pediatrics, Massachusetts General Hospital, Harvard Medical School
Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, and Massachusetts Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

Matthew J Baker, MD, Consulting Staff, Collier Neurologic Specialists, Naples Community Hospital
Matthew J Baker, MD is a member of the following medical societies: American Academy of Neurology
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Neurology, Division of Pediatrics, Department of Pediatrics, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
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.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.