Neurofibromatosis Type 1: A Diagnostic Mimicker at CT

Abstract

Neurofibromatosis type 1 (NF1) is the most common of the phakomatoses and has a variety of localized or, more frequently, systemic manifestations throughout the thorax, abdomen, pelvis, and extremities. Classic computed tomographic (CT) findings in NF1 with thoracic involvement include small, well-defined subcutaneous neurofibromas, focal thoracic scoliosis, posterior vertebral scalloping, enlarged neural foramina, and characteristic rib abnormalities due to bone dysplasia or erosion from adjacent neurofibromas. However, more atypical manifestations are occasionally seen, and magnetic resonance (MR) imaging can be useful in equivocal cases. NF1 with abdominopelvic involvement tends to arise in the retroperitoneal, mesenteric, and paraspinal regions; it may be quite extensive and therefore difficult to distinguish from adenopathy at CT. The multiplanar capabilities of MR imaging, particularly with T2 weighting, make this modality helpful in evaluating affected patients and making the diagnosis. The classic peripheral manifestations of NF1 include limb hemihypertrophy, pseudarthrosis, peripheral nerve neurofibromas, and subcutaneous common and plexiform neurofibromas. In some cases of NF1, imaging findings are inconclusive, and biopsy and subsequent pathologic analysis are required. Familiarity with the various manifestations of NF1 in different anatomic locations is important in making the diagnosis and optimizing postdiagnostic treatment.