Subacute bilateral visual loss in methylmalonic acidemia

Traber, Ghislaine and Baumgartner, Matthias R. and Schwarz, Urs and Pangalu, Athina and Donath, Marc Y. and Landau, Klara. (2011) Subacute bilateral visual loss in methylmalonic acidemia. Journal of neuro-ophthalmology, Vol. 31, H. 4. pp. 344-346.

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Official URL: http://edoc.unibas.ch/dok/A6004124

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A 23-year-old woman known to have methylmalonic acidemia (MMA) since birth suffered bilateral visual loss within 5 days. Multiple sclerosis, Leber hereditary optic neuropathy, vasculitis, infections (in particular treponema), and vitamin deficiency were ruled out. The optic nerve head changed from normal in appearance to atrophic. Treatment attempts with high-dose intravenous steroids and coenzyme Q10 combined with vitamin E were ineffective. The patient's underlying disease was metabolically well controlled by strict diet and carnitine supplementation. Toxic damage of both optic nerves due to MMA is the most likely mechanism. MRI showed moderate enhancement of both optic nerves. To our knowledge, this is the first report of a morphological correlate on MRI.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Infection Biology (Khanna)
UniBasel Contributors:Donath, Marc
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Lippincott Williams & Wilkins
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:08 May 2015 08:44
Deposited On:25 Oct 2013 08:32

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