Magnetic resonance imaging findings in Leigh syndrome with a novel compound heterozygous SURF1 gene mutation

Abstract

AbstractLeigh syndrome is a severe neurodegenerative disorder that mainly arises in infancy or early childhood. In 1998, mutations in the nuclear SURF1 gene, which encodes a protein involved in the cytochrome c oxidase, were identified in patients with Leigh syndrome. We report here a patient with Leigh syndrome carrying a novel compound heterozygous mutation in the SURF1 gene, in whom symmetrical parieto‐occipital cortex and white matter lesions were observed by magnetic resonance imaging, in addition to the characteristic basal ganglia lesions in Leigh syndrome.