Imaging in neurofibromatosis type 1: An original research article with focus on spinal lesions

Background: Neurocutaneous syndromes encompass a group of disorders that affect the embryonic ectodermal plate, which includes the central and peripheral nervous systems, as well as the overlying skin. Materials and methods: All patients were known case of neurofibromatosis type 1. All patients for this study had undergone MRI whole spine with brain screening. Conventional radiographs were also taken when and where needed after taking informed consent. Results: In our study we found that 15 (60%) patients having lumbar neurofibromas, 7 (28%) patients having cervical neurofibromas, 2 (8%) patients having thoracic neurofibromas and 1 (4%) patients having sacral neurofibromas. Conclusion: MRI allows non-invasive detection of spinal neurofibromas and helps determine intrdural or extradural origin and their relationship to the neural foramina, spinal canal, and thecal sac and spinal cord. The target sign (bright on T2, with dark collagen centrally) is highly suggestive of a peripheral neurofibroma on MRI.