eMedicine Specialties > Orthopedic Surgery > Pediatrics

Neurofibromatosis: Follow-up

Author: Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Contributor Information and Disclosures

Updated: Jan 15, 2009

Outcome and Prognosis

The outcome and prognosis of patients with neurofibromatosis varies and is difficult to predict. Basic issues to consider include the following:

  • The onset of intracranial tumors
  • Malignant degeneration of plexiform neurofibromas to neurofibrosarcomas
  • Erosion of vertebral elements by dural ectasia, which is most worrisome in children who underwent spinal instrumentation when they were young and in whom the vertebrae appear to be eroding over time, leaving only the implants with minimal structural bone
  • Late-onset fracture of congenital tibial dysplasias that progress to subsequent non-union, occasionally resulting in amputations
  • Fracture with subsequent delay in union noted in most extremity bones and also in the clavicle and pelvis

Future and Controversies

The future of chemotherapeutic approaches to any of the multiple clinical expressions of the disorder is perplexing. Results of clinical trials thus far have not been consistently positive in decreasing the pain or the size of plexiform neurofibromas. The intracranial lesions have, to date, shown no significant response to chemotherapy. Despite its limitations, surgery has been the only consistent treatment modality. However, except for pain and significant deformity, the other indications for surgery are somewhat suspect.

 


More on Neurofibromatosis

Overview: Neurofibromatosis
Workup: Neurofibromatosis
Treatment: Neurofibromatosis
Follow-up: Neurofibromatosis
References
Further Reading
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References

  1. Crawford AH. Neurofibromatosis. In: Stuart L, Weinstein R, eds The Pediatric Spine, Principles and Practice. Vol 1. 1994.

  2. Duymaz A, Karabekmez FE, Keskin M, Tosun Z. Neurofibromatosis in a family: is there a tendency to one side of the face?. J Plast Reconstr Aesthet Surg. Oct 2008;61(10):1169. [Medline].

  3. Cheng SF, Chen YI, Chang CY, Peng Y, Liao SL. Malignant peripheral nerve sheath tumor of the orbit: malignant transformation from neurofibroma without neurofibromatosis. Ophthal Plast Reconstr Surg. Sep-Oct 2008;24(5):413-5. [Medline].

  4. Tibbles JA, Cohen MM Jr. The Proteus syndrome: the Elephant Man diagnosed. Br Med J (Clin Res Ed). Sep 13 1986;293(6548):683-5. [Medline].

  5. Crawford AH, Schorry EK. Neurofibromatosis in children: the role of the orthopaedist. J Am Acad Orthop Surg. Jul-Aug 1999;7(4):217-30. [Medline].

  6. Crawford AH. Neurofibromatosis in childhood. Instr Course Lect. 1981;30:56-74. [Medline].

  7. Crawford AH. Neurofibromatosis in children. Acta Orthop Scand Suppl. 1986;218:1-60. [Medline].

  8. Wozniak W, Karwacki MW. Is "watchful waiting" superior to surgery in children with neurofibromatosis type 1 presenting with extracranial and extramedullary tumor mass at diagnosis?. Childs Nerv Syst. Jul 1 2008;[Medline].

  9. de Oliveira MG, Pozatti Moure S, Sérgio Batista P, Moraes Chaves AC, Rados PV, Sant Ana Filho M. NF1 diagnosis criteria and associated sarcomatous tumor review of the literature and case report. Oral Maxillofac Surg. Sep 25 2008;[Medline].

  10. Cairns AG, North KN. Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry. Oct 2008;79(10):1165-70. [Medline].

  11. Yong-Hing K, Kalamchi A, MacEwen GD. Cervical spine abnormalities in neurofibromatosis. J Bone Joint Surg Br. 1969;51:843-7.

  12. Curtis BH, Fisher RL, Butterfield WL, Saunders FP. Neurofibromatosis with paraplegia. Report of eight cases. J Bone Joint Surg Am. Jul 1969;51(5):843-61. [Medline].

  13. Hsu LC, Lee PC, Leong JC. Dystrophic spinal deformities in neurofibromatosis. Treatment by anterior and posterior fusion. J Bone Joint Surg Br. Aug 1984;66(4):495-9. [Medline].

  14. Sirois JL 3rd, Drennan JC. Dystrophic spinal deformity in neurofibromatosis. J Pediatr Orthop. Jul-Aug 1990;10(4):522-6. [Medline].

  15. Li M, Fang X, Li Y, Ni J, Gu S, Zhu X. Successful use of posterior instrumented spinal fusion alone for scoliosis in 19 patients with neurofibromatosis type-1 followed up for at least 25 months. Arch Orthop Trauma Surg. Jul 24 2008;[Medline].

  16. Taylor T, Jaspan T, Milano G, Gregson R, Parker T, Ritzmann T, et al. Radiological classification of optic pathway gliomas: experience of a modified functional classification system. Br J Radiol. Oct 2008;81(970):761-6. [Medline].

  17. Carroll SL, Ratner N. How does the Schwann cell lineage form tumors in NF1?. Glia. Sep 19 2008;56(14):1590-1605. [Medline].

  18. Crawford AH. Management of skeletal complications. In: Von Recklinghausen's Neurofibromatosis. Vol 6. NIH Consensus Development Conference Statement;1987.

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Further Reading

Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.
National Society of Genetic Counselors.  2007 Aug.  21 pages.  NGC:006248
 
Long-term follow-up guidelines for survivors of childhood, adolescent, and young adult cancers. Sections 38-91: radiation. Children's Oncology Group.  2003 Sep (revised 2006 Mar).  74 pages.  NGC:005599

Related eMedicine topics:
Neurofibromatosis, Type 1 (Neurology)

Neurofibromatosis, Type 2 (Neurology)

Neurofibromatosis Type 1 (Radiology)

Neurofibromatosis Type 2 (Radiology)

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Keywords

neurofibromatosis, von Recklinghausen's disease, von Recklinghausen disease, neurofibromatosis type 1, NF1, peripheral neurofibromatosis, neurofibromatosis type 2, NF2, central neurofibromatosis

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Contributor Information and Disclosures

Author

Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Alvin H Crawford, MD, FACS is a member of the following medical societies: Ohio State Medical Association and Scoliosis Research Society
Disclosure: Nothing to disclose.

Medical Editor

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

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

Managing Editor

George H Thompson, MD, Director, Pediatric Orthopedics, Rainbow Babies and Children's Hospital
George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa
Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

 
 
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