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

• Published in: Curēus (Palo Alto, CA) CA), 2021-01, Vol.13 (1), p.e12908
• Main Authors: Ewida, Amr, Ahmed, Rashid, Luo, Anqi, Ghonim, Hesham T, Anilkumar, Arayamparambil C
• Format: Article
• Language: English
• Subjects: Genetics; Neurology; Pediatrics
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.12908

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.