Painless Loss of Vision as The First Presentation of Undiagnosed Neurofibromatosis 1 in A Child

Siba Prosad PAUL, Shameem AHMED

Abstract


261

How to Cite This Article: Paul SP, Ahmed S, Painless Loss of Vision as The First Presentation of Undiagnosed Neurofibromatosis 1 in A Child. Iran J Child Neurol. Autumn 2015;9(4):58-60.

Abstract

Objective

A 10 year old presented with painless loss of vision as the first manifestation of neurofibromatosis 1 (NF1). Clinical assessment detected diagnostic features of NF1 and Magnetic Resonance Imaging (MRI) scan confirmed presence of plexiform neurofibroma and bilateral optic pathway glioma (OPG). The child was managed with chemotherapy which helped in improvement of vision. Review of current literature recommends vision testing in diagnosed cases of NP1 till 7 years of age; this is aimed at detecting visual impairments resulting from a symptomatic OPG.


Keywords


Neurofibromatosis type 1; Visual acuity loss; Optic pathway glioma; Annual ophthalmological assessment; MRI

Full Text:

PDF

204

References


Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet. 2007;44(2):81-8.

Rull G. Neurofibromatosis. 2011. Available at: http://www.patient.co.uk/doctor/Neurofibromatosis#ref-1

Graff JM, Coombs JM, Pramanik S. Neurofibromatosis Type 1 - Optic Nerve Glioma: 8-year-old white female with acute awareness of complete vision loss, OS. EyeRounds.org. May 15, 2005; Available from: http://www.EyeRounds.org/cases/38-NeurofibromatosisOpticNerveGlioma.htm.

Gu S, Glaug N, Cnaan A, Packer RJ, Avery RA. Ganglion cell layer-inner plexiform layer thickness and vision loss in young children with optic pathway gliomas. Invest Ophthalmol Vis Sci. 2014;55(3):1402-8.

Simmons I, Gogi D. Screening children with NF1 – Yes. Eye (Lond). 2010;24():1429-31

Gutmann DH, Listernick R, Ferner RE. Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1. Eye (Lond). 2011;25(6):818; author reply 818-9.

Lama G, Esposito Salsano M, Grassia C, Calabrese E, Grassia MG, Bismuto R, et al. Neurofibromatosis type 1 and optic pathway glioma. A long-term follow-up. Minerva Pediatr. 2007;59(1):13-21.




DOI: https://doi.org/10.22037/ijcn.v9i4.7415

Refbacks

  • There are currently no refbacks.


Copyright (c) 2015