title: New pattern of brain MRI lesions in isolated complex I deficiency.
abstract: We describe a boy presenting at the end of the first year of life with severely delayed motor development and only mild mental retardation. Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. Elevated lactate and protein in cerebrospinal fluid were the most prominent laboratory abnormalities. Brain MRI showed severe supratentorial white matter changes. Cerebellar white matter appeared normal whereas the signal of the atrophic cerebellar cortex was markedly increased. In vivo 1H-magnetic resonance spectroscopy of the parietooccipital white matter region showed a distinct resonance of lactate. By means of biochemical analysis of respiratory chain enzymes in fibroblasts, the diagnosis of an isolated complex I deficiency could be established in our patient.
authors.affiliation: Department of Paediatric Neurology, University Children's Hospital Heidelberg, Germany. nicole_wolf@med.uni-heidelberg.de
authors.forename: N I
authors.initials: NI
authors.lastname: Wolf
authors.forename: A
authors.initials: A
authors.lastname: Seitz
authors.forename: I
authors.initials: I
authors.lastname: Harting
authors.forename: J A M
authors.initials: JA
authors.lastname: Smeitink
authors.forename: F
authors.initials: F
authors.lastname: Trijbels
authors.forename: L P
authors.initials: LP
authors.lastname: van den Heuvel
authors.forename: H
authors.initials: H
authors.lastname: Schlemmer
authors.forename: F
authors.initials: F
authors.lastname: Ebinger
authors.forename: W
authors.initials: W
authors.lastname: Evert
authors.forename: D
authors.initials: D
authors.lastname: Rating
mesh_terms: D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D028361:Mitochondrial Diseases / Q000378:metabolism*