Abstract
Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome
of the central nervous system. The aim of the present study was to characterize the
clinical course of early onset NF2. The specific Japanese disease registry for NF2
in 2010 was analyzed retrospectively. The male:female ratio for the 312 patients identified
in the database was 1:1.29. The median age at onset was 25 years (range 2–76 years), with 31.3% of patients exhibiting symptoms at <20 years of age. Patients with an age at onset of <20 years were found to have more frequent spinal cord and extravestibular cranial nerve
involvement, cutaneous signs, and convulsions than patients with a later age at onset.
Of patients younger than 18 years of age, half did not exhibit hearing problems; in contrast, they frequently
had other cranial nerve schwannomas, cranial meningioma, spinal cord tumors, and subcutaneous
schwannoma. There were weak but significant positive correlations between symptomatic
periods and disability scores in patients with an age of onset of ⩾20 years (R = 0.225; P < 0.01) and those with an earlier age of onset (R= 0.306; P< 0.01). Although there were no significant differences in disability scores between
genders or patients with an age at onset of <20 versus ⩾20 years, patients with an earlier age at onset had significantly higher disability scores
for spinal symptoms than patients with an age at onset of ⩾20 years. Atypical extravestibular presentation is common in early onset NF2, with more
prominent spinal symptoms.
Keywords
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Article info
Publication history
Published online: February 15, 2013
Accepted:
January 16,
2013
Received in revised form:
January 15,
2013
Received:
November 16,
2012
Identification
Copyright
© 2013 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
