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Giant Plexiform Neurofibroma in Neurofibromatosis Type 1

Elena Savva, MD; Maria Isabel Vargas, MD; Jean-Yves Beaulieu, MD; André Truffert, MD; Karim Burkhardt, MD; Johannes A. Lobrinus, MD; Pierre R. Burkhard, MD
Arch Neurol. 2010;67(3):356-357. doi:10.1001/archneurol.2009.338.
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A 22-year-old male student had a 7-year history of intermittent painful sensation in the right Achilles tendon and the posterior part of the leg and thigh that followed a distribution suggestive of an L5 or S1 radiculopathy. For 2 years, he has noticed some weakness in his right leg, with footdrop and limping while walking. When he came to our attention in 2008, the neurologic examination demonstrated diffuse atrophy of the right lower limb (Figure, A), without fasciculation. Mild paresis of knee flexion and of foot and toe dorsiflexion was found, with partially reducible right footdrop. Knee jerk was diminished, and ankle jerk was abolished. No cutaneous sensory deficit could be delineated. An electromyogram demonstrated sensorimotor axonal loss in the territory of the sciatic nerve, more marked in its tibial branch, where 75% axonotmesis of motor fibers and 50% axonotmesis of sensory fibers were found. A magnetic resonance image of the right thigh showed a gigantic, lobulated tumor entrapping the sciatic nerve and extending from the greater sciatic foramen to the distal tier of the thigh (Figure, B).

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Figure.

Three views of giant plexiform neurofibroma in neurofibromatosis type 1. A, Aspect of patient's lower extremities showing diffuse atrophy of the right lower limb. B, Coronal 3-dimensional short-term inversion recovery magnetic resonance imaging sequence showing a giant and lobulated mass entrapping the right sciatic nerve. C, Whole mount section of tumor showing grossly enlarged nerve fascicles. Mucin- and collagen-rich segments with scattered cells or a fascicular growth pattern (arrow) and areas with multifocal schwannomalike nodules (arrowhead) are seen (hematoxylin-eosin, original magnification ×1).

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