Abstract
Three or more years after completion of treatment, we re-examined 16 patients with orthopaedic problems associated with neurofibromatosis I (NF-I) who were treated at our institution between 1976 and 1999. Seven boys and five girls between the ages of 5 and 15 years presented with congenital pseudarthrosis of the tibia (CPT). All had undergone previous surgery elsewhere.
The patients had typical skin lesions and the associated radiological appearances of pseudarthrosis of the tibia. There were two cystic types of CPT, five hourglass and five normotrophic types, mostly at the level of the distal third of the tibia. Primary consolidation of the CPT was not obtained in any patient. Three patients underwent below-knee amputation after multiple surgical procedures. Eight had consolidations of the pseudarthrosis after multiple operations, but all had residual deformities and/or shortening. One patient remained with a non-consolidation. The surgical procedures included intramedullary rodding with or without bone grafting, fibular bypass grafting, Soffield turn-about rodding, electrical stimulation, and, in patients seen since 1989, various Ilizarov techniques including lengthening and bone transport.
Our results suggest that the best treatment of this perplexing paediatric orthopaedic problem remains undetermined. Considerations for the selection of treatment include the pathologic anatomic pattern of NF-I and the patient’s age and expectations. A National Orthopaedic Neurofibromatosis Register will be useful in the decision-making process.
The abstracts were edited by Prof. M.B.E. Sweet. Correspondence should be addressed to him at the Department of Orthopaedic Surgery, Medical School, University of the Witwatersrand, 7 York Road, Parktown, 2193 South Africa
