Paediatric presentation of type 2 neurofibromatosis

Background-Neurofibromatosis type 2 (NF2) is a highly penetrant autosomal d ominant condition predisposing affected individuals to schwannomas and meni ngiomas. The proportion of children presenting with meningioma or schwannom a who have NF2 is not well described, and neither is the mode of presentati on in most children with the inherited disease. Aims-To determine the frequency of childhood meningioma and schwannoma case s caused by NF2 and the mode of presentation. Methods-The records of the Manchester Children's Tumour Registry from 1954 were searched for cases of meningioma and schwannoma. Paediatric presentati on in a large UK series of NF2 was also studied. Results-18% (61/334) of patients with NF2 on the UK database presented in t he paediatric age group (0-15 years), frequently with the symptoms of an is olated tumour. More than half had no family history to alert the clinician to their susceptibility. Three of 22 children presenting with a meningioma on the Manchester Children's Tumour Registry have gone on to develop classi c features of NF2. Conclusions-Clinicians should suspect NF2 in children presenting with menin gioma, schwannoma, and skin features, such as neurofibromas/schwannomas, bu t fewer than 6 cafe au lait patches, who thus fall short of a diagnosis of neurofibromatosis type 1.