- 1/190 000
- tapering, cyst formation or tapering & anterolateral bowing
- usually progresses to pathologic fracture
- generally no tendancy to heal
Clinical
- anterolateral bowing in first or second year of life
- fracture by 2-3 years of age
- associated ~ 50% with neurofibromas
- 2 or more of Crowe criteria
- café au lait spots
- characteristic bone dystrophic changes
- positive family history
- subcutaneous neurofibromas
- positive lesion biopsy
- 2 or more of Crowe criteria
- remainder of cases have no disorder
Xray
- junction of the middle & distal 1/3
- fibular pseudoarthrosis is also frequently present
Boyd
- fracture at birth
- hourglass constriction of tibia
- bone cyts
- schlerotic segment of tibia without constriction
- dysplastic fibula
- intraosseous neurofibroma
Pathology
- pseudoarthrosis has hamartomatous tissue
- tissue does not resemble neurofibroma
Natural History
- no tendancy to heal once fracture occurs
- goals include heal, prevent refracture & achieve normal length & angulation
Prevent Fracture
- long leg brace
- prophylactic bone bypass graft is controversial
- do not perform corrective osteotomy
Treat Established Fracture
- bone graft & plate success < 50%
- electrical stimulation is unproven
- IM Rod
- Resect the pseudoarthrosis
- Rod through the calcaneous, talus retrograde “williams technique”
- Bonegraft
- Splint & protect until maturity
- Complication of refracture
- Salvage
- Vascularized fibula
- External compression/ distraction treatment
- Amputation – if severe shortening with stiff functionless foot