Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures

Amr Ewida,Anqi Luo,Arayamparambil C Anilkumar,Rashid Ahmed,Hesham T Ghonim

doi:10.7759/cureus.12908

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a complex group of disorders with multisystem involvement that have a wide range of biochemical and genetic defects. The earliest symptoms of MELAS typically include easy fatigability, muscle weakness, encephalopathy with stroke-like episodes, recurrent headaches and seizures. The pathogenesis of stroke-like episodes manifesting as focal deficits like acute cortical blindness is not fully understood. We present an eight-year-old, right-handed boy with MELAS confirmed by the presence of pathogenic missense variant mutation (mt.3243A>G) presenting with acute intermittent reversible episodes of cortical blindness and Anton-Babinski Syndrome secondary to concurrent occipital lobe seizures captured during video electroencephalography (V-EEG) monitoring, in addition to the neuro-imaging which was not consistent with acute ischemic stroke.This case highlights the importance of the V-EEG monitoring besides clinical testing and radiographic correlation during acute cortical blindness episodes in MELAS as occipital lobe seizures could be a part of the symptomatology.

Highlights

The syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS; OMIM #540000) is a maternally inherited disorder due to mitochondrial deoxyribonucleic acid (DNA) point mutation
We present an eight-yearold, right-handed boy with MELAS confirmed by the presence of pathogenic missense variant mutation presenting with acute intermittent reversible episodes of cortical blindness and AntonBabinski Syndrome secondary to concurrent occipital lobe seizures captured during video electroencephalography (V-EEG) monitoring, in addition to the neuro-imaging which was not consistent with acute ischemic stroke
We report an eight-year-old boy who presented with a stroke-like episode, followed by intermittent acute cortical blindness and Anton-Babinski Syndrome attributable to concomitant occipital lobe seizures with clinical, radiological and electroencephalographic evidence

Summary

Introduction

The syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS; OMIM #540000) is a maternally inherited disorder due to mitochondrial deoxyribonucleic acid (DNA) point mutation. We report an eight-year-old boy who presented with a stroke-like episode, followed by intermittent acute cortical blindness and Anton-Babinski Syndrome attributable to concomitant occipital lobe seizures with clinical, radiological and electroencephalographic evidence. Video electroencephalography (V-EEG) monitoring during these episodes revealed multiple occipital seizures emerging from the right occipital lobe with rapid spread to the left occipital region (Figure 1) These electrographic seizures correlated with the episodes of cortical blindness and the patient intermittently regained his vision with the absence of the ictal pattern. The constellations of findings were related to postictal changes His condition improved with optimizing anti-seizure medications, by administering lorazepam, adjusting the levetiracetam dose and adding lacosamide as a second drug. How to cite this article Ewida A, Ahmed R, Luo A, et al (January 25, 2021) Mitochondrial Myopathy, Encephalopathy, Lactic acidosis and Stroke-Like Episodes Syndrome Presenting With Anton-Babinski Syndrome and Concurrent Occipital Lobe Seizures.

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