A 22 year old woman with progressive vision loss

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Presentation transcript:

A 22 year old woman with progressive vision loss Teaching NeuroImages Neurology Resident and Fellow Section © 2017 American Academy of Neurology

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. © 2017 American Academy of Neurology

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. © 2017 American Academy of Neurology

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: 379-391. 2. McClelland CM, Van Stavern GP, Tselis AC. Leber hereditary optic neuropathy mimicking neuromyelitis optica. J Neuroophthalmol 2011; 31(3): 265-8. Kassa et al. © 2017 American Academy of Neurology