Neurofibromatosis



Neurofibromatosis


Michael P. Federle, MD, FACR





Key Facts


Imaging



  • NF1 belongs to group of disorders referred to as “phakomatoses” (neurocutaneous syndromes)


  • Inherited disorders characterized by tumors or tumor-like nodules of CNS, eyes, and skin


  • Paraspinal and presacral masses



    • Plexiform neurofibromas of lumbosacral plexus


    • Homogeneous, hypodense, cylindrical masses


    • Often affect iliopsoas compartment


    • Often involve multiple vertebral levels


    • Widening of neural foramina


  • Malignant peripheral nerve sheath tumor



    • May develop from any plexiform neurofibroma


    • Most common malignant abdominal tumor in patients with NF1


    • Large, heterogeneous, variably enhancing mass with ill-defined borders


  • Plexiform neurofibromas (NF) of: GI, GU tracts; mesentery; hepatobiliary


  • Other tumors



    • Ganglioneuroma


    • Carcinoid tumor (usually duodenal)


    • Pheochromocytoma and paraganglioma (occur in 1-5%)


    • GI stromal tumors


Pathology



  • Schwann cells, fibroblasts, and collagen within myxoid matrix



    • Accounts for imaging appearance of hypodense, hypovascular masses


Diagnostic Checklist



  • Most frequent abdominal neoplasm in NF1 is plexiform neurofibroma arising in retroperitoneum, in paraspinal or presacral location






(Left) Axial CT shows multiple cutaneous neurofibromas image and a left psoas plexiform neurofibroma image, the most common manifestations of NF1 detected on abdominal imaging studies. (Right) Axial CECT shows a spherical soft tissue mass image representing a retroperitoneal paraganglioma, 1 of the less common tumors associated with NF1. Other sections showed multiple skin nodules and erosive changes in the spine, along with subtle masses within the spinal canal (not displayed).






(Left) Axial CECT in a young man with NF1 shows plexiform neurofibromas around the aorta image, within the psoas muscles bilaterally image, and along the ribs image, the latter arising from intercostal nerves. (Right) Axial CT in the same patient shows additional plexiform neurofibromas image within the iliopsoas muscles. The dominant, heterogeneous mass in the midline mesentery is a malignant peripheral nerve sheath tumor image. Cutaneous neurofibromas are also seen image.



TERMINOLOGY


Abbreviations



  • Neurofibromatosis type 1 (NF1)


Synonyms



  • Peripheral neurofibromatosis, von Recklinghausen syndrome (disease)


Definitions



  • Genetic disorder characterized by development of multiple tumors, predominantly of neuroectodermal or mesenchymal origin


IMAGING


General Features

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Jun 8, 2016 | Posted by in GENERAL RADIOLOGY | Comments Off on Neurofibromatosis

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