The frequency and mode of presentation of neurofibromatosis type 2 (NF2) was investigated at St Mary’s Hospital, the Royal Manchester Children’s Hospital, and the Manchester Royal Infirmary, Manchester, UK. A review of records of the Manchester Children’s Tumour Registry from 1954 showed 61 (18%) of 334 patients with NF2 presented in the pediatric age group, at 15 years or less. Of these 61 patients, 26 presented with symptoms of vestibular schwannoma (hearing loss, tinnitus, and facial palsy), while 19 presented with symptoms of a meningioma, 7 with spinal tumor, and 5 with cutaneous tumor. Children of affected parents are at 50% risk of NF2. Those with no family history probably have a new mutation of the NF2 gene. [1]

COMMENT. Primary diagnostic criteria for neurofibromatosis type 2 are: Bilateral vestibular schwannomas or family history of NF2 plus 1) Unilateral vestibular schwannoma or 2) Any two of: meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities. NF2 should be suspected in children presenting with meningioma, scwannoma, and skin features, insufficient for a diagnosis of NF1.

Magnetic resonance spectroscopy studies in children with neurofibromatosis type 1 are reported from Johns Hopkins Hospital, Baltimore, MD [2]. Absolute metabolite concentrations within UBOs, globus pallidus, and thalami showed an age-dependent pattern, with elevated choline and preserved N-acetylaspartate (NAA) levels in younger subjects (<10 years) and reduced NAA and normal choline levels in older subjects. The MRS metabolic abnormality in UBO’s is a generalized phenomenon without a T2 signal counterpart in affected brain regions. The possible significance of these MRS changes is discussed.