Comprehensive Multi-Modal Radiological Diagnostics of Neurofibromatosis

Objective: to analyze the possibilities and study the informative value of computed tomography (CT) and magnetic resonance imaging (MRI) in visualizing the clinical manifestations of neurofibromatosis.
Material and methods. Based on retrospective analysis of the medical records, a group of types 1 and 2 neurofibromatose patients observed at the Children’s Republican Clinical Hospital was formed. In total, 35 children with a confirmed or clinically suspected disease of phacomatoses group were examined. The patients met the following inclusion criteria: age from 0 to 18 years inclusive, СT and MRI multi-system manifestations, characteristic visual changes.
Results. Brain and spinal cord study revealed focal areas of signal intensity (77.14%), optic nerve gliomas with a spread to chiasm (25,00%), peripheral neurofibromas (34.29%). Chest lesions included plexiform neurofibromas paravasally in the mediastinum and paravertebrally (5.71%), peripheral neurofibromas (2.86%). Examination of the abdominal cavity and retroperitoneal space showed peripheral neurofibromas (2.86%), and multi-node volumetric masses (2.86%). In the lower limbs, the following lesions were found: plexiform neurofibromas with limb soft tissue lesions (5.71%), fibrous dysplasia (5.71%). MRI showed a higher sensitivity in assessing central nervous system damage due to the high tissue contrast, which makes it possible to assess in detail the size, localization and growth pattern of the nervous tissue tumors, as well as their relation to the surrounding nervous structures. CT is preferable for evaluating visceral structures of the abdominal cavity and retroperitoneal space, detecting bone and thoracic lesions mediated by neurofibromatosis.
Conclusion. A multi-modal approach integrating the use of CT and MRI provides a comprehensive visual representation of neurofibromatosis manifestations.

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