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


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.

SUBMITTER: Ewida A 

PROVIDER: S-EPMC7904536 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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

Ewida Amr A   Ahmed Rashid R   Luo Anqi A   Ghonim Hesham T HT   Anilkumar Arayamparambil C AC  

Cureus 20210125 1


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  ...[more]

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