1. A 22 year old woman with progressive vision loss
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Neurology
Resident and Fellow Section
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2. Vignette
- Presented with painless binocular vision loss over 5 months - Associated with photopsia and visual scotomas - Also had sensory loss and paresthesia over both lower extremities - Her maternal uncle has Leber hereditary optic neuropathy
Kassa et al.
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3. Imaging Fig. 1 Fig. 2 Kassa et al.
Figure 1. MRI findings in the spinal cord and optic nerves
Sagittal T2W images of the cervical spine (A) show extensive grey matter hyperintensity in the spinal cord and mild swelling. Coronal T2W images of the orbits (B) show central hyperintensity in the optic nerves near the chiasm (asterisk). Coronal post-contrast T1W images (C) show enhancement of the apical segment of the left optic nerve (arrow).
Figure 2. MRI findings in the brain
Sagittal T2W FLAIR images of the brain (A-C, left-to-right) and axial T2W FLAIR images (D, F) show symmetric hyperintensities along the floor of the fourth ventricle in the region of the vestibular nuclei, and in the colliculi (arrowheads). Axial DWI (E, G) shows corresponding restricted diffusion. There is edema in the visualized cord (B).
Fig. 1
Fig. 2
Kassa et al.
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4. Leber hereditary optic neuropathy masquerading as neuromyelitis optica
CSF analysis showed no nucleated cells, normal protein but elevated glucose and lactate; oligoclonal bands, IgG index and aquaporin-4 antibodies were negative
Our patient was confirmed to have LHON m.3460 G>A mitochondrial DNA point mutation
LHON causes bilateral sequential vision loss from selective retinal ganglion cell loss thought to be through free radical oxidative injury1
Neuromyelitis optica-like presentation of LHON (optic neuropathy + longitudinally extensive myelopathy) is rare2
The mechanism for spinal cord injury is unknown
References
1. Levy LA. Mechanisms of retinal specific-cell death in Leber hereditary optic neuropathy. Trans Am Ophthalmol Soc 2007; 105:
2. McClelland CM, Van Stavern GP, Tselis AC. Leber hereditary optic neuropathy mimicking neuromyelitis optica. J Neuroophthalmol 2011; 31(3):
Kassa et al.
© 2017 American Academy of Neurology