Although all previously reported mutations in the SURF1 gene have been found in patients with cytochrome oxidase (COX)-deficient Leigh syndrome, the phenotype associated with SURF1 protein deficiency should be extended to include leukodystrophy.
We describe the second documented case in the literature to have a SURF-1 mutation presenting with diffuse leukodystrophy, adding to the growing number of cases of mitochondrial syndromes presenting with white matter disease.