Download PDF
Neuropediatrics 2022; 53(05): 370-375
DOI: 10.1055/a-1816-8746
Short Communication

The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital

Cohen Rony 
1   Department of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
2   Pediatric Department, Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel
,
Sharon Aharoni
1   Department of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
2   Pediatric Department, Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel
,
Ayelet Halevy
1   Department of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel
2   Pediatric Department, Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Screening studies have shown detection of optic pathway gliomas (OPGs) in 8 to 31% of children with neurofibromatosis type 1 (NF1). Many of those affected show prolonged indolent phases, but others develop vision disturbances even before diagnosis and treatment. We assessed the clinical presentation at diagnosis, location, natural progression, and risk factors for impaired vision of OPG. The clinical database of the NF1 multidisciplinary clinic of Schneider Children's Medical Center of Israel was reviewed for all patients diagnosed and followed with NF1 during 2007 to 2019. OPG was diagnosed by hyperintensity and thickening along the optic pathway on T2-weighted brain magnetic resonance imaging (MRI), with or without contrast enhancement. Of 257 children with NF1 who underwent MRI, 57 (22%) were diagnosed with OPG; 31 (54%) were females. Twenty-five (44%) had familial NF1. Fifteen (26%) who exhibited tumor progression and worsening in ophthalmic examinations required treatment. Post-chiasmatic glioma was a predictive factor for treatment (p < 0.05), whereas MRI done later and female gender were not significant. Four patients who eventually needed therapy had normal ophthalmic examinations at least 1 year prior to their first MRI. For 6 (40%) of the patients treated, vision continued to worsen. Our findings demonstrate that normal ophthalmic examinations do not always exclude OPG in children with NF1. Early brain MRI before age 36 months may detect OPG, lead to better follow-up and early treatment, and help improve vision outcome.

Keywords

optic pathway gliomas - neurofibromatosis type 1 - brain MRI

Supplementary Material



Publication History

Received: 02 January 2022

Accepted: 31 March 2022

Accepted Manuscript online:
05 April 2022

Article published online:
17 July 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Cassina M, Frizziero L, Opocher E. et al. Optic pathway glioma in type 1 neurofibromatosis: review of its pathogenesis, diagnostic assessment, and treatment recommendations. Cancers (Basel) 2019; 11 (11) 1790
    CrossrefPubMedGoogle Scholar
  • 2 Prada CE, Hufnagel RB, Hummel TR. et al. The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1. J Pediatr 2015; 167 (04) 851-856
    CrossrefPubMedGoogle Scholar
  • 3 Zahavi A, Toledano H, Cohen R. et al. Use of optical coherence tomography to detect retinal nerve fiber loss in children with optic pathway glioma. Front Neurol 2018; 9: 1102
    CrossrefPubMedGoogle Scholar
  • 4 Robert-Boire V, Rosca L, Samson Y, Ospina LH, Perreault S. Clinical presentation and outcome of patients with optic pathway glioma. Pediatr Neurol 2017; 75: 55-60
    CrossrefPubMedGoogle Scholar
  • 5 Bergqvist C, Servy A, Valeyrie-Allanore L, Ferkal S, Combemale P, Wolkenstein P. NF France Network. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J Rare Dis 2020; 15 (01) 37
    CrossrefPubMedGoogle Scholar
  • 6 Fisher MJ, Loguidice M, Gutmann DH. et al. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: a multicenter retrospective analysis. Neuro-oncol 2012; 14 (06) 790-797
    CrossrefPubMedGoogle Scholar
  • 7 Listernick R, Ferner RE, Liu GT, Gutmann DH. Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 2007; 61 (03) 189-198
    CrossrefPubMedGoogle Scholar
  • 8 National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, MD, USA, July 13–15, 1987. Neurofibromatosis 1988; 1 (03) 172-178
    PubMedGoogle Scholar
  • 9 Trevisson E, Cassina M, Opocher E. et al. Natural history of optic pathway gliomas in a cohort of unselected patients affected by neurofibromatosis 1. J Neurooncol 2017; 134 (02) 279-287
    CrossrefPubMedGoogle Scholar
  • 10 King A, Listernick R, Charrow J, Piersall L, Gutmann DH. Optic pathway gliomas in neurofibromatosis type 1: the effect of presenting symptoms on outcome. Am J Med Genet A 2003; 122A (02) 95-99
    CrossrefPubMedGoogle Scholar
  • 11 Blanchard G, Lafforgue MP, Lion-François L. et al; NF France network. Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort. Eur J Paediatr Neurol 2016; 20 (02) 275-281
    CrossrefPubMedGoogle Scholar
  • 12 Salerno S, Granata C, Trapenese M. et al. Is MRI imaging in pediatric age totally safe? A critical reprisal. Radiol Med (Torino) 2018; 123 (09) 695-702
    CrossrefPubMedGoogle Scholar
  • 13 Ibañez LV, Stoep AV, Myers K. et al. Promoting early autism detection and intervention in underserved communities: study protocol for a pragmatic trial using a stepped-wedge design. BMC Psychiatry 2019; 19 (01) 169
    CrossrefPubMedGoogle Scholar
  • 14 Klesse LJ, Jordan JT, Radtke HB. et al. The use of MEK inhibitors in neurofibromatosis type 1-associated tumors and management of toxicities. Oncologist 2020; 25 (07) e1109-e1116
    CrossrefPubMedGoogle Scholar
  • 15 Jecrois ES, Zheng W, Bornhorst M. et al. Treatment during a developmental window prevents NF1-associated optic pathway gliomas by targeting Erk-dependent migrating glial progenitors. Dev Cell 2021; 56 (20) 2871-2885
    CrossrefPubMedGoogle Scholar