Paediatric presentation of type 2 neurofibromatosis
- aDepartment of Medical Genetics St Mary's Hospital, Manchester M13 0JH, UK, bCRC Paediatric and Familial Cancer Research Group, Royal Manchester Children's Hospital, Manchester M27 4HA, UK, cDepartment of Otolaryngology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK
- Dr Evans
- Accepted 13 July 1999
Abstract
BACKGROUND Neurofibromatosis type 2 (NF2) is a highly penetrant autosomal dominant condition predisposing affected individuals to schwannomas and meningiomas. The proportion of children presenting with meningioma or schwannoma who have NF2 is not well described, and neither is the mode of presentation in most children with the inherited disease.
AIMS To determine the frequency of childhood meningioma and schwannoma cases 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 presentation in a large UK series of NF2 was also studied.
RESULTS 18% (61/334) of patients with NF2 on the UK database presented in the paediatric age group (0–15 years), frequently with the symptoms of an isolated 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 classic features of NF2.
CONCLUSIONS Clinicians should suspect NF2 in children presenting with meningioma, schwannoma, and skin features, such as neurofibromas/schwannomas, but fewer than 6 café au lait patches, who thus fall short of a diagnosis of neurofibromatosis type 1.
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Children presenting with meningioma or schwannoma should be suspected of having neurofibromatosis type 2 (NF2)
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NF2 is a severe debilitating disease, which is worse with childhood onset
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Screening programmes for children of affected parents and of individuals with an NF2 related tumour in childhood have now been established
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Presymptomatic genetic testing for children at risk of NF2 is now possible in most families
