Neurofibromatosis type 2 (NF2): clinical features of our 9 patients

Introduction: Neurofibromatosis type 2 (NF2) is an autosomal dominant (AD) disorder with development of multiple tumors of central (bilateral acoustic neurinomas or vestibular schwanomas) and peripheral nerve system (spinal and cutaneous neurofibromas, schwanomas) and ophthalmologic changes (juvenile cataract). Although the complete clinical expression of the NF2 gene, localized on chromosome 22 can be found mostly in adults, the first changes and/or symptoms can be seen during childhood. AIM of this study was to show the clinical manifestations, clinical course and outcome of NF2 in our patients. Patients and methods: During the period from 1988 to 2008 we diagnosed, treated and followed-up 9 patients with NF2 (2 males, 7 of female sex). In 5 patients the disease started during childhood. All patients fulfilled the diagnostic criteria for NF2. Results: In 4/9 patients the disease was of AD familial type and 5/9 patients were sporadic with novel gene mutation. Average age at the time of first symptoms was 18.0 years (R 5.0 – 38.0), and age at the time of diagnosis 22.0 years (R 9.5 – 38.4). Clinical signs of NF2 were: bilateral (6/9) and unilateral vestibular schwanomas with hearing loss (2/9), multiple cerebral meningeomas (3/9), multiple spinal neurinomas (2/9), multiple spinal meningeomas (1/9), spinal intramedular gliomas (1/9), juvenile cataract (2/9 patients). Two female patients had refractory epilepsy, one had hypertensive hydrocephaly. In the majority (8/9) signs of peripheral neurofibromatosis (multiple café au lait spots and cutaneous neurofibromas) were noticed to a lesser degree. The mortality rate during the period in question was 33.3 % (3/9).

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