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Orthopaedic manifestations of neurofibromatosis in children: an update
Michael G Vitale1, Abhijit Guha, David L Skaggs
1Department of Orthopaedic Surgery, University of Southern California Keck School of Medicine and Childrens Hospital Los Angeles, Los Angeles, CA 90027-6062, USA.
Insights
Neurofibromatosis (NF) is a common genetic disorder. Diagnosis relies on clinical criteria, with 50% experiencing musculoskeletal issues like scoliosis and tibial pseudarthrosis, often requiring complex surgical interventions.
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- Neurofibromatosis (NF) is a prevalent genetic disorder.
- Diagnosis is primarily clinical, with symptoms developing over time.
- Musculoskeletal issues affect approximately 50% of patients.
Purpose of the Study:
- To review the diagnostic criteria and clinical presentation of neurofibromatosis.
- To highlight common musculoskeletal manifestations, particularly scoliosis and congenital pseudarthrosis of the tibia.
- To discuss the challenges and treatment options for these orthopedic complications in children with NF.
Main Methods:
- Review of existing literature on neurofibromatosis and its orthopedic complications.
- Analysis of clinical diagnostic criteria for NF.
- Summary of surgical and non-surgical treatment modalities for scoliosis and pseudarthrosis.
Main Results:
- Neurofibromatosis diagnosis relies on clinical criteria, often presenting in childhood.
- Scoliosis affects about 20% of children with NF Type I, with dystrophic curves indicating rapid progression.
- Congenital pseudarthrosis of the tibia is another common and challenging complication.
- Surgical interventions for spinal and tibial deformities are complex due to associated neurofibromas, multiplanar deformities, and poor bone quality.
Conclusions:
- Neurofibromatosis presents significant diagnostic and management challenges, especially concerning musculoskeletal manifestations.
- Effective treatment of scoliosis and congenital pseudarthrosis in NF patients requires specialized approaches.
- Early intervention and multidisciplinary care are crucial for improving outcomes and quality of life in affected children.
Abstract:
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.
