Does my patient with neurofibromatosis 1 need an MRI?

Abstract

Pediatricians frequently call geneticists and neurologists to ask whether a child with newly diagnosed neurofibromatosis 1 (NF1) needs brain magnetic resonance imaging (MRI). There is no clear consensus. In this issue of The Journal, Prada et al provide more data for that debate.The investigators reviewed 826 children with NF1 at a single institution who received routine, serial screening brain MRIs to evaluate for intracranial abnormalities between 1990 and 2010, and found that 149 children had optic pathway gliomas (OPG). The precise definition of OPG was made in the course of clinical care. The vast majority were asymptomatic and never treated. However, 22 children received treatments with chemotherapy and, in some cases, surgical resection. Twelve of 22 children had vision loss and 6 progressed to complete vision loss in one (n = 5) or both (n = 1) eyes. With one exception, all 677 cases who had normal imaging for optic nerves and chiasm before 15 months never developed OPG at a later age. Although this latter finding is useful and perhaps reassuring, there is no standard recommendation for baseline neuroimaging of children with NF-1. Imaging small children requires sedation and is expensive. The report by Prada et al points to the need for further refinement and perhaps stratification by risk of which patients with NF1 benefit most from MRI screening.Article page 851▶ Pediatricians frequently call geneticists and neurologists to ask whether a child with newly diagnosed neurofibromatosis 1 (NF1) needs brain magnetic resonance imaging (MRI). There is no clear consensus. In this issue of The Journal, Prada et al provide more data for that debate. The investigators reviewed 826 children with NF1 at a single institution who received routine, serial screening brain MRIs to evaluate for intracranial abnormalities between 1990 and 2010, and found that 149 children had optic pathway gliomas (OPG). The precise definition of OPG was made in the course of clinical care. The vast majority were asymptomatic and never treated. However, 22 children received treatments with chemotherapy and, in some cases, surgical resection. Twelve of 22 children had vision loss and 6 progressed to complete vision loss in one (n = 5) or both (n = 1) eyes. With one exception, all 677 cases who had normal imaging for optic nerves and chiasm before 15 months never developed OPG at a later age. Although this latter finding is useful and perhaps reassuring, there is no standard recommendation for baseline neuroimaging of children with NF-1. Imaging small children requires sedation and is expensive. The report by Prada et al points to the need for further refinement and perhaps stratification by risk of which patients with NF1 benefit most from MRI screening. Article page 851▶ The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1The Journal of PediatricsVol. 167Issue 4PreviewTo evaluate the utility of screening brain/orbital magnetic resonance imaging (MRI) in a large population of children with neurofibromatosis type 1 (NF1) over a 20-year period. Full-Text PDF