NEUROFIBROMATOSIS-2 IN THE PEDIATRIC AGE GROUP

BILATERAL ACOUSTIC NEUROFIBROMATOSIS or neurofibromatosis 2 (NF2) is a n autosomal dominant disease predisposing to the formation of multiple tumors in the central and peripheral nervous system. Vestibular schwa nnomas (VSs) are considered to be the hallmark of the disease, but oth er tumors and ocular findings occur as well. In patients that do not c arry the NF2 mutation, VSs usually occur in the fifth or sixth decade of life. VSs in patients with NF2 are often bilateral and become sympt omatic in the third or fourth decade of life. In order to define the e arly manifestations of NF2, we examined nine children who either had o ne parent with NF2 or had multiple skin or spinal tumors suggestive of NF2. In addition to neurological, dermatological, and ocular examinat ions, all patients were studied by gadolinium-enhanced magnetic resona nce imaging of the brain and spine. None of the children exhibited sym ptoms or signs due to VSs. However, VSs were detected during the neuro radiological work-up in six children. Seven children developed symptom s or signs due to skin or spinal tumors. Slit lamp examination detecte d cataracts in four patients as young as 10 years of age. The diagnosi s of NF2 in the pediatric age group requires a high degree of suspicio n and should be considered in children with multiple central nervous s ystem or skin tumors without cafe-au-lait spots or Lisch nodules. Beca use VSs are unlikely to produce the signs seen at the time of admissio n, careful examination of the skin and eyes is necessary and should be followed by gadolinium-enhanced magnetic resonance imaging of the bra in and spine. First-degree relatives need to be examined as well.