Migratory Rolandic Encephalopathy Caused by the Mitochondrial ND3 Variant

摘要

An 18-year-old woman was admitted to the hospital with focal seizures. Serial MRI studies showed migratory rolandic lesions (Figure, A-D) and the EEG showed sharp waves when the lesion appeared. The initial differential diagnosis included cerebral venous thrombosis, myelin oligodendrocyte glycoprotein antibody-associated disease, and metabolic disorders. Magnetic resonance venography, serum, and CSF analyses were unrevealing. An analysis of the entire mtDNA of urine sediment by next-generation sequencing showed a pathogenic m.10191T>C variant in the mt-ND3 gene (degree of heteroplasmy, 87%). Further analysis revealed the m.10191T>C variant was heteroplasmic in blood (24%) and oral mucosal (86%) cells. This case illustrates that m.10191T>C variant may present with migratory rolandic encephalopathy.1