Abstract
Neurofibromatosis type 1 (NF1) is a common, autosomal dominant neurocutaneous disorder
in which any organ system, including the skin, skeleton and nervous system can be
affected. In this study, we compared the electrophysiological and magnetic resonance
imaging (MRI) findings in patients with NF1. Thirty-nine adolescent and adult patients
(23 women and 16 men) diagnosed with NF1 with a mean age of 25.8±10 years (10–56) were included in this study. We collected data in the form of the results
of neurological examinations, multimodal evoked potentials (EPs; brainstem auditory
evoked potentials, BAEPs; somatosensory evoked potentials, SEPs; and visual evoked
potentials, VEPs), cerebral/orbital/spinal MRIs, and electroneuromyography (ENMG).
Twenty (51.3%) patients showed abnormal VEPs, 14 (35.9%) showed abnormal SEPs, and
six (15.4%) showed abnormal BAEPs. All evoked potentials were abnormal in four (10.3%)
cases. These electrophysiological findings occurred primarily in the absence of any
clinical sign related to the affected system. MRI revealed pathologic findings in
26 of 39 patients, and these were not always correlated with visual, auditory, or
somatosensory pathway abnormalities. ENMG showed polyneuropathy in two of 33 patients
who underwent ENMG. Our study showed that MRI and electrophysiological abnormalities
may be found in most patients with NF1, even in the absence of associated clinical
symptoms or signs. Electrophysiological testing is helpful for monitoring the subclinical
involvement of the central and peripheral nervous systems in patients with NF1.
Keywords
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Article info
Publication history
Published online: April 19, 2011
Accepted:
March 28,
2011
Received in revised form:
March 27,
2011
Received:
December 8,
2010
Identification
Copyright
© 2011 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
