title: SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old.
abstract: Mutations in the nuclear SURF-1 gene lead directly to cytochrome-c oxidase deficiency, the most common respiratory chain defect in Leigh syndrome, a neurodegenerative mitochondrial disease involving the deep gray matter and brain stem. 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. We examine magnetic resonance imaging (MRI) findings, which suggest that high-grade cytotoxic edema on diffusion-weighted imaging may be a helpful diagnostic feature in differentiating mitochondrial leukodystrophy from other, more common leukodystrophies. We show how MRI white matter findings may progress to include the brain stem, suggesting that a leukodystrophy due to respiratory chain defects can precede more classic Leigh syndrome deep gray matter radiographic findings.
authors.affiliation: Department of Neurology, Division of Child Neurology, Saint Louis University School of Medicine, St. Louis, Missouri, USA. jtimothymd@yahoo.com
authors.forename: Jeremy
authors.initials: J
authors.lastname: Timothy
authors.forename: Thomas
authors.initials: T
authors.lastname: Geller
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging; D018450:Disease Progression; D006801:Humans; D056784:Leukoencephalopathies / Q000097:blood / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein