eMedicine Specialties > Orthopedic Surgery > Pediatrics
Neurofibromatosis: Treatment
Updated: Jan 15, 2009
Treatment
Medical Therapy
Treatment for congenital tibial dysplasia may involve the use of braces and/or pulsating electromagnetic fields.
Braces
Bracing can be both preventive and therapeutic. Children should be fitted with polypropylene knee-ankle-foot orthoses (KAFOs) as soon as they start to stand or walk around furniture.
Pulsating electromagnetic fields
The source of pulsating electromagnetic fields may be external, such as the clamshell device over an ankle-foot orthosis, or an internal unit implanted in the soft tissue around the area of pseudarthrosis, usually in conjunction with an autogenous bone graft. The effectiveness of this form of treatment remains highly controversial.
Surgical Therapy
Surgical bone grafting
Autogenous bone is placed into the excised pseudarthrosis site. An intramedullary rod is placed from the proximal tibia across the pseudarthrosis site, incorporating the graft and extending down through the ankle across the talus and into the calcaneus. Rod replacement is required as the patient grows, and continuous bracing is necessary. A telescoping rod may be used and affixed to the distal tibia. Another variation is to retrograde a rush rod from the calcaneus across the ankle, incorporating the grafted segment and continuing into the proximal tibial metaphysis.
Vascularized autogenous grafting
The most popular vascularized graft is the contralateral fibula, which is followed by the iliac crest. The graft is removed extraperiosteally and placed into the pseudarthrosis site. The blood vessels are then anastomosed to those normally supplying the tibia. Stabilizing the grafted segment is necessary. The distal tibia and fibula of the normal leg must be fused to prevent proximal migration of the fibular and ankle valgus. Problems associated with vascularized grafts include progressive angular deformity, failure to achieve complete length, failure to unite with consequent further pseudarthrosis, and valgus ankle instability, and disability in the donor limb.
Compression and distraction histogenesis
Compression and distraction histogenesis of bone and soft tissue by using the Ilizarov method offers many theoretical advantages to the treatment of this problem. Unfortunately, the early glowing reports of bony synostosis failed in patients in whom bracing was not continued. Efforts now are being directed toward distraction and/or compression histogenesis over an intramedullary rod. Early reports are encouraging.
Amputation
Amputation remains a viable alternative. The weight-bearing surface of the foot should be maintained a la Boyd-Syme amputation, as opposed to a transtibial amputation that predisposes the child to subsequent surgeries for bony stump overgrowth. The length from this procedure adds biomechanical stability to prosthetic wear. The new Seattle foot and/or runner's foot have made prosthetics more functional, and participation in team sports such as soccer is not prohibited after this procedure.
Regardless of the procedure used, some form of bracing is required for all of these patients until skeletal maturity is achieved. The potentially high incidence (25%) of subsequent central nervous system neoplasms should prompt consideration whether attempts at bone grafting should be continued after 3 or 4 procedures. By the time the child is aged 7 years, the benefit of further procedures, as opposed to amputation, should be scrutinized carefully.
Treatments for disorders of bone growth
Two disorders of bone growth are segmental hypertrophy and subperiosteal proliferative bone growth. The diffuse hypertrophy of an extremity may be related to changes in the soft tissues (eg, hemangiomatosis, lymph angiomatosis, elephantiasis, beaded plexiform neuromas). The zones of overgrowth in bone and soft tissues are usually unilateral, involving the lower extremities or the head and neck. These osseous changes characteristically cause the bone to elongate with a wavy irregularity or thickening of the cortex. A higher incidence of neoplasia is associated with segmental hypertrophy than with other lesions.
Attempts to debulk the soft tissue and to resect the bone have not necessarily resulted in significant cosmetic improvement. Early epiphyseal arrest of the involved bone or leg lengthening of the normal, short side has been fairly successful.
Follow-up
All complications of dystrophic and/or dysplastic musculoskeletal complications have a distinct potential to progress; therefore, prolonged follow-up is strongly encouraged. Malignant degeneration of existing tumors and the development of new tumors are possible.
Complications
See Introduction, Problem.
More on Neurofibromatosis |
| Overview: Neurofibromatosis |
| Workup: Neurofibromatosis |
 Treatment: Neurofibromatosis |
| Follow-up: Neurofibromatosis |
| References |
| Further Reading |
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References
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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].
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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].
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Crawford AH. Management of skeletal complications. In: Von Recklinghausen's Neurofibromatosis. Vol 6. NIH Consensus Development Conference Statement;1987.
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)
Keywords
neurofibromatosis, von Recklinghausen's disease, von Recklinghausen disease, neurofibromatosis type 1, NF1, peripheral neurofibromatosis, neurofibromatosis type 2, NF2, central neurofibromatosis
