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Congenital Pseudarthrosis of the Tibia

Congenital pseudarthrosis of the tibia
Objectives
  1. Define congenital pseudarthrosis of the tibia
  2. Describe the natural history of congenital pseudarthrosis of the tibia
  3. Describe current treatment approaches for congenital pseudarthrosis of the tibia
  4. Discuss differential diagnosis of congenital pseudarthrosis of the tibia
  5. Discuss systemic condition(s) associated with congenital pseudarthrosis of the tibia

Discussion points
  1. Is a united tibia of normal length but so dysplastic that continuous bracing is required preferable to amputation?
  2. Is union a criterion for successful treatment of congenital pseudarthrosis of the tibia?

Discussion
Congenital pseudarthrosis is (fortunately) a rare pediatric orthopaedic condition with its incidence being less than 1/10 that of DDH. Congenital pseudarthrosis is characterized by anterolateral bowing of the tibia, with tapering of the tibia at the defective site. Cystic or sclerotic changes may be present. There are two classification systems, which are quite similar in current usage, the Boyd and Andersen. The Andersen is more economical in verbiage, with 5 types: dysplastic, cystic, sclerotic, fibular, and clubfoot or congenital band type. Most of the writings concern the first 3 types. The dysplastic type, with an hourglass constriction at the site of the defect is most often associated with neurofibromatosis. Neurofibromatosis is linked to about 55% of cases of congenital pseudarthrosis of the tibia. There are a few other rare associations, such as constricting bands. The pathology is nonspecific from other etiologies of pseudarthrosis, with a cuff of hamartomatous tissue surrounding the lesion. Fibroblasts and osteoclasts are present. Neurofibromas, axons, and perineural cells are never seen in the pseudarthrosis. The natural history is somewhat variable. Pseudarthrosis may be present in infancy, or the tibia may remain intact throughout a portion of childhood only to fracture later; most by age 2 or 3. Late onset fractures seem to have a better prognosis. Differential diagnosis can include physiologic bowing (which has a gentle bow of the entire leg rather than the sharp, localized bow seen with pseudarthrosis), focal cartilaginous dysplasia (which has a good prognosis), and posteromedial bow which also has a better prognosis. Prophylactic bracing may prevent or delay fracture, but the data is not sufficient to be sure.

There is a great deal of information available on treatment of congenital pseudarthrosis of the tibia. Currently popular methods include excision of the lesion, followed by compression with the Ilizarov device, which can also be used to lengthen the tibia, vascularized free fibular graft, intramedullary rodding, which includes the ankle and subtalar joint and autogenous grafting, electrical stimulation (used less now than 20 years ago), and bypass autogenous graft. Results are better in children > 5 years old, and poorer with the dysplastic type. Rates of union around 60-70% are often reported. When treatment fails, a Symes amputation and prosthetic fitting can result in a very functional limb. Sometimes the pseudarthrosis will heal after amputation, which is the reason underlying the inclusion of the ankle and foot in intramedullary rodding procedures. Fracture following successful achievement of union is not rare. Patients with union at skeletal maturity usually, but not always, fare well in adult life.

There is presently active disagreement among pediatric orthopaedists treating this condition regarding the optimum treatment, and indications for amputation. Those performing reconstructive procedures are more inclined to regard amputation as a failure; others less enthusiastic about reconstructive procedures regard amputation and prosthetic fitting as superior to a reconstructed but fragile limb. It is worthwhile, when perusing results of treatment of pseudarthrosis to note how results are performed. In one paper reporting successful treatment, a small entry in the results section notes that many patients had residual deformity, but were so fatigued from the treatment, they elected to defer deformity correction. Congenital pseudarthrosis of the tibia is still a vexing problem for the pediatric orthopaedist, and there is no consensus on optimum treatment.

References
  1. Andersen KS. Congenital pseudarthrosis of the leg. Late results. Journal of Bone & Joint Surgery - American Volume 1976;58(5):657-62.
  2. Andersen KS. Congenital pseudarthrosis of the tibia and neurofibromatosis. Acta Orthopaedica Scandinavica 1976;47(1):108-11.
  3. Anderson DJ, Schoenecker PL, Sheridan JJ, Rich MM. Use of an intramedullary rod for the treatment of congenital pseudarthrosis of the tibia. Journal of Bone & Joint Surgery - American Volume 1992;74(2):161-8.
  4. Boero S, Catagni M, Donzelli O, Facchini R, Frediani PV. Congenital pseudarthrosis of the tibia associated with neurofibromatosis-1: treatment with Ilizarov's device. Journal of Pediatric Orthopedics 1997;17(5):675-84.
  5. Boyd HB. Pathology and natural history of congenital pseudarthrosis of the tibia. Clinical Orthopaedics & Related Research 1982(166):5-13
  6. Campanacci M, Nicoll EA, Pagella P. The differential diagnosis of congenital pseudarthrosis of the tibia. International Orthopaedics 1981;4(4):283-8
  7. Crossett LS, Beaty JH, Betz RR, Warner W, Clancy M, Steel HH. Congenital pseudarthrosis of the tibia. Long-term follow-up study. Clinical Orthopaedics & Related Research 1989(245):16-8.
  8. Eyre-Brook AL, Baily RA, Price CH. Infantile pseudarthrosis of the tibia. Three cases treated successfully by delayed autogenous by-pass graft, with some comments on the causative lesion. Journal of Bone & Joint Surgery - British Volume 1969;51(4):604-13.
  9. Ghanem I, Damsin JP, Carlioz H. Ilizarov technique in the treatment of congenital pseudarthrosis of the tibia. Journal of Pediatric Orthopedics 1997;17(5):685-90
  10. Gilbert A, Brockman R. Congenital pseudarthrosis of the tibia. Long-term followup of 29 cases treated by microvascular bone transfer. Clinical Orthopaedics & Related Research 1995(314):37-44.
  11. Guidera KJ, Raney EM, Ganey T, Albani W, Pugh L, Ogden JA. Ilizarov treatment of congenital pseudarthroses of the tibia. Journal of Pediatric Orthopedics 1997;17(5):668-74.
  12. Guille JT, Kumar SJ, Shah A. Spontaneous union of a congenital pseudarthrosis of the tibia after Syme amputation. Clinical Orthopaedics & Related Research 1998(351):180-5.
  13. Jacobsen ST, Crawford AH, Millar EA, Steel HH. The Syme amputation in patients with congenital pseudarthrosis of the tibia. Journal of Bone & Joint Surgery - American Volume 1983;65(4):533-7.
  14. McCarthy RE. Amputation for congenital pseudarthrosis of the tibia. Indications and techniques. Clinical Orthopaedics & Related Research 1982(166):58-61.
  15. Morrissy RT, Riseborough EJ, Hall JE. Congenital pseudarthrosis of the tibia. Journal of Bone & Joint Surgery - British Volume 1981;63-B(3):367-75.
  16. Newell RL, Durbin FC. The aetiology of congenital angulation of tubular bones with constriction of the medullary canal, and its relationship to congenital pseudarthrosis. Journal of Bone & Joint Surgery - British Volume 1976;58-B(4):444-7.
  17. Roach JW, Shindell R, Green NE. Late-onset pseudarthrosis of the dysplastic tibia. Journal of Bone & Joint Surgery - American Volume 1993;75(11):1593-601.
  18. Sponseller PD. Localized disorders of bone and soft tissue. In: Morrissy RT, Weinstein SL, editors. Pediatric Orthopaedics. Philadelphia: Lippincott-Raven; 1996. p. 322-29.
  19. Strong ML, Wong-Chung J. Prophylactic bypass grafting of the prepseudarthrotic tibia in neurofibromatosis. Journal of Pediatric Orthopedics 1991;11(6):757-64.
  20. Tuncay IC, Johnston CE, 2nd, Birch JG. Spontaneous resolution of congenital anterolateral bowing of the tibia. Journal of Pediatric Orthopedics 1994;14(5):599-602.
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