Neurol Clin Neurosci 4(1):34-35. 2016.

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


Leigh 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.