Abstract:

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.

日本語要旨:

新規のSURF1変異をもつLeigh脳症患者で、典型的な両側基底核病変以外に、頭頂後頭葉に皮質及び白質の病変をMRIで認めた。