E3383. A Comprehensive Review of Neurofibromas and Distinctive Musculoskeletal Manifestations of Neurofibromatosis Type 1
Authors
Jonathan Lin;
University of California, Los Angeles Health
Benjamin Levine;
University of California, Los Angeles Health
Jordan Gross;
University of California, Los Angeles Health
Background
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder associated with multisystemic manifestations. The presence of neurofibromas and distinctive osseous lesions are two of the six diagnostic criteria of NF1. The purpose of this review is to provide a comprehensive imaging overview of neurofibromas and the musculoskeletal findings associated with NF1.
Educational Goals / Teaching Points
This exhibit will review the diagnostic criteria of NF1. Benign and malignant neurogenic neoplasms and the multiple skeletal abnormalities related to NF1 will be discussed. Cranial and spine manifestations, such as sphenoid wing dysplasia, dystrophic scoliosis and meningoceles, will also be reviewed. This educational exhibit is targeted towards radiology trainees, general radiologists, and musculoskeletal radiologists.
Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
Ultrasound and MRI play a key role in the characterization of superficial and deep neurogenic tumors. MRI is useful in evaluating the extent of regional disease and detecting features that suggest malignant transformation.
Distinctive skeletal findings result from mesodermal dysplasia and chronic bony remodeling. Extrinsic pressure from adjacent neurofibromas can also lead to bone deformity. CT and radiography are used to evaluate skeletal abnormalities.
Conclusion
NF1 is a neurocutaneous disorder that can present with multisystem manifestations. Understanding the diagnostic criteria and key imaging features of neurofibromas and associated musculoskeletal findings is essential in reaching the diagnosis and guiding management.
