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Abstract Details

Mitochondrial Encephalomyopathy, Lactic acidosis, And Stroke-like episodes(MELAS) manifesting with Intermittent Cortical Blindness secondary to Occipital Lobe Seizures
Child Neurology and Developmental Neurology
P4 - Poster Session 4 (5:30 PM-6:30 PM)
7-065
NA

Stroke-like episodes and seizures are part of the clinical signature for MELAS. Cortical blindness is well-documented in MELAS patients with occipital epilepsy. However, pathogenesis of cortical blindness in MELAS is still not well understood.

We present a case of MELAS manifesting with intermittent cortical blindness secondary to occipital lobe seizures.

An 8-year-old, right-handed male with recently diagnosed MELAS, presented with sudden onset vomiting, vision changes, fevers, and malaise, followed by intermittent episodes of acute cortical blindness. Fundus exam was normal with intact pupillary reflexes. During these episodes, patient was also noted to have Anton-Babinski Syndrome with inability to discern objects, color, or people around him with anosognosia and confabulation. Video Electroencephalography (V-EEG) monitoring showed multiple occipital seizures, emerging from the right occipital lobe and diffusing rapidly over the left occipital region. These electrographic seizures were associated with the episodes of cortical blindness , and the patient was intermittently regaining his vision with resolution of ictal pattern on V-EEG. MRI with and without contrast showed abnormal T2 FLAIR hyperintensity of the cortex and subcortical white matter of the occipital lobes, greater on the right with corresponding mild cortical restricted diffusion with no drop out signals on ADC. Constellation of findings related to postictal changes. His condition improved with adjustments of anti-epileptic drugs including administering lorazepam, continuing with levetiracetam and adding lacosamide as a second drug.

Mitochondrial disorders are important differential diagnostic considerations in pediatric occipital lobe epilepsy. Our case adds to the limited literature on acute cortical blindness episode due to occipital lobe seizures in MELAS,  and possibly may indicate concurrent stroke-like attack in acute phase as evidenced by V-EEG and MRI findings. Levetiracetam  and lacosamide appear to be appropriate choices of anti epileptics in MELAS patients because of their effect on the mitochondria. 
Authors/Disclosures
Rashid A. Ahmed, MD (Upstate University Hospital)
PRESENTER
Dr. Ahmed has nothing to disclose.
No disclosure on file
Ekenedilichukwu C. Nwoye, MD (Barrow) No disclosure on file
Amr H. Ewida, MD (West Virginia University School of Medicine) Dr. Ewida has nothing to disclose.
Guojun N. Zhang, MD Dr. Zhang has nothing to disclose.