Orthopaedic manifestations of neurofibromatosis in children: an update.

Neurofibromatosis is one of the most common genetic disorders affecting mankind. Despite extensive basic science research, the diagnosis still is based largely on well-defined clinical criteria, which often present gradually during childhood. Approximately 50% of patients have significant musculoskeletal manifestations, with scoliosis and congenital pseudarthrosis of the tibia most common. Approximately 20% of children with Type I neurofibromatosis present with scoliosis with or without the classic dystrophic features, such as vertebral scalloping and rib penciling. Dystrophic curves portend rapid progression and require early fusion. Surgical treatment often is challenging because of the common presence of neurofibromas adjacent to the spinal cord, significant multiplanar deformity, and poor bone quality. Congenital pseudarthrosis of the tibia also continues to present significant difficulties. The use of a brace is the mainstay of early treatment, whereas intramedullary rodding commonly is used for operative fixation. Grafting of the free fibula and correction using techniques of distraction and compression histiogenesis with Ilizarov fixators have been reported for refractory cases with varying degrees of success. Multiple heroic, operative attempts may have a tremendous toll on the quality of life of affected children through their early childhood. In addition to these and other distinctive musculoskeletal lesions, affected children often suffer from various medical problems.