title: Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency.
abstract: Five children with Leigh's disease and progressive neurological symptoms were compared with 14 control children. In all patients, MRI showed bilateral lesions of the putamina and caudate heads. Serum lactate was normal for four of the children, and CSF lactate slightly elevated for three. Volume-selective proton MR spectroscopy (1H-MRS) of the basal ganglia in the Leigh patients revealed elevated lactate, giving further evidence for a defect of energy metabolism in the brain. 1H-MRS is an important tool for non-invasive brain tissue analysis in Leigh's disease, particularly in the absence of peripheral lactate elevation.
authors.affiliation: Department of Child Neurology, University of Tübingen, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Krägeloh-Mann
authors.forename: W
authors.initials: W
authors.lastname: Grodd
authors.forename: M
authors.initials: M
authors.lastname: Schöning
authors.forename: K
authors.initials: K
authors.lastname: Marquard
authors.forename: T
authors.initials: T
authors.lastname: Nägele
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
mesh_terms: D000140:Acidosis, Lactic / Q000134:cerebrospinal fluid; D001479:Basal Ganglia / Q000648:ultrastructure; D001921:Brain / Q000000981:diagnostic imaging* / Q000201:enzymology; D001927:Brain Diseases / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007773:Lactates / Q000134:cerebrospinal fluid; D007888:Leigh Disease / Q000175:diagnosis* / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D011768:Pyruvate Dehydrogenase Complex / Q000032:analysis*; D011877:Radionuclide Imaging
chemical_list: D007773:Lactates; D011768:Pyruvate Dehydrogenase Complex