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Should a child with neurofibromatosis type 1 be screened for central nervous system tumours with neuroimaging?
  1. Caroline Bodey,
  2. Arnab Seal
  1. Child and Family Unit, Wortley Beck Health Centre, Leeds, UK
  1. Correspondence to Dr Caroline Bodey, Child and Family Unit, Wortley Beck Health Centre, Leeds LS12 5SG, UK; carolinebodey{at}hotmail.co.uk

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Scenario

A 4-year-old boy with a recent diagnosis of neurofibromatosis type 1 (NF1) attends your outpatient clinic. His mother has read that optic pathway gliomas (OPG) occur in 15–20% of children with NF1 under 6 years of age. She is worried about the complications of this type of brain tumour, which include visual loss and precocious puberty. She asks you if her son can have an MRI scan to check for an optic pathway glioma. He has a normal ophthalmological examination.

Question

In a child with neurofibromatosis type 1 (NF1) (patient), does screening for OPGs with MRI (intervention) compared to standard clinical examination and ophthalmological review (control) reduce the incidence of complications related to optic pathway glioma (outcome)?

Search

Cochrane—no relevant trials/reviews.

Ovid Medline and EMBASE databases used.

MeSH words used: Neurofibromatosis 1, Mass screening, optic chiasm, optic nerve glioma, optic nerve neoplasms, optic pathway glioma, magnetic resonance imaging.

Keywords used: Neurofibromatosis type 1; MRI; Optic pathway glioma; Screening.

Limited to English Language and Human.

Medline search revealed eight results, of which four were potentially relevant. Embase search revealed 100 results, of which 11 were potentially relevant.

Only one relevant study was found which examined the use of MRI screening for OPGs. This study, along with two studies examining the use of ophthalmological review to detect symptomatic OPGs, is summarised in the table below.

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