A 19-year-old man was admitted for subacute severe painless bilateral loss of vision. The patient was known to be a healthy carrier of the mitochondrial G11778A mutation, with a family history of Leber hereditary optic neuropathy. Funduscopy revealed bilateral optic disc elevation and hyperemia (figure). Goldmann visual fields demonstrated large central scotomas in both eyes. CSF disclosed normal opening pressure and cytochemical examination. Unexpectedly, brain MRI revealed an asymmetrical chiasmal enlargement and enhancement (figure). Similar cases have rarely been reported.1,2 These findings would suggest disruption of the blood–brain barrier at the early stage of the disease,2 likely due to an inflammatory-like mechanism.
(A) Funduscopy reveals bilateral elevation and hyperemia (pseudoedema) of the optic discs. (B) T2 fluid-attenuated inversion recovery images show asymmetrical chiasmal hyperintensities and enlargement. (C, D) Axial and sagittal gadolinium-enhanced T1-weighted images show chiasmal enhancement (arrows).
AUTHOR CONTRIBUTIONS
Elodie Ong: drafting/revising the manuscript, analysis or interpretation of data, accepts responsibility for conduct of research and final approval, acquisition of data. Damien Biotti: drafting/revising the manuscript, study concept or design, analysis or interpretation of data, accepts responsibility for conduct of research and final approval, acquisition of data, study supervision. Lucie Abouaf: drafting/revising the manuscript, accepts responsibility for conduct of research and final approval, acquisition of data. Guy Louis-Tisserand: analysis or interpretation of data, accepts responsibility for conduct of research and final approval, acquisition of data. Caroline Tilikete: drafting/revising the manuscript, study concept or design, accepts responsibility for conduct of research and final approval, study supervision. Alain Vighetto: drafting/revising the manuscript, analysis or interpretation of data, accepts responsibility for conduct of research and final approval, acquisition of data.
STUDY FUNDING
No targeted funding reported.
DISCLOSURE
The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
Footnotes
Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- © 2013 American Academy of Neurology
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