Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association
1Department of Radiology, Hernán Henríquez Aravena Hospital; Temuco, IX Región, Chile - aaron.vidal@redsalud.gov.cl, aaronvidalmd@gmail.com.
Abstract:
A3243G mutation is associated with several mitochondrial disorders, MELAS syndrome being the most common. Polymicrogyrias constitute an extensive group of malformations of cortical development due to abnormal cortical organization. The association between MELAS/A3243G mutation and polymicrogyria is extremely rare; in 18 years of investigation regarding A3243G mutation and related disorders only one case has been reported. We describe a female patient with proven MELAS/A3243G mutation, developmental delay and mild left hemiparesis in whom MRI showed extensive bilateral polymicrogyria. The association of these two disorders and their possible relation are discussed.
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