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Subacute bilateral visual loss in methylmalonic acidemia


Traber, G; Baumgartner, M R; Schwarz, U; Pangalu, A; Donath, M Y; Landau, K (2011). Subacute bilateral visual loss in methylmalonic acidemia. Journal of Neuro-Ophthalmology, 31(4):344-346.

Abstract

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Ophthalmology Clinic
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
04 Faculty of Medicine > University Hospital Zurich > Clinic for Neuroradiology
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2011
Deposited On:20 Sep 2011 12:13
Last Modified:05 Apr 2016 15:01
Publisher:Lippincott Wiliams & Wilkins
ISSN:1070-8022
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:10.1097/WNO.0b013e31822db480
PubMed ID:21873889
Permanent URL: http://doi.org/10.5167/uzh-49714

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