title: MR spectroscopic findings in a case of Alpers-Huttenlocher syndrome.
abstract: Alpers-Huttenlocher syndrome, considered a mitochondrial disease, combines encephalopathy and liver failure. An 11-year-old boy with Alpers-Huttenlocher syndrome underwent conventional MR imaging, diffusion-weighted imaging, and proton MR spectroscopy. Diffusion-weighted imaging showed cytotoxic edema interpreted as acute-phase encephalopathy. MR spectroscopy revealed a lactate peak in the cortex that appeared abnormal on diffusion-weighted images, possibly representing respiratory deficiency with anaerobic metabolism. MR spectroscopy proved to be more sensitive regarding lactate detection than did neurometabolic examination of serum and CSF. A reduced N-acetylaspartate-creatine ratio was detected in both the cortex that appeared abnormal and the cortex that appeared normal on the diffusion-weighted images, indicating neuronal damage that was widespread, even beyond the boundaries of conventional MR imaging changes.
authors.affiliation: Section of Neuroradiology, Clinic of Neurosurgery, Christian-Albrechts-Universität Kiel, Kiel, Germany.
authors.forename: Katharina
authors.initials: K
authors.lastname: Flemming
authors.forename: Stefan
authors.initials: S
authors.lastname: Ulmer
authors.forename: Barbara
authors.initials: B
authors.lastname: Duisberg
authors.forename: Andreas
authors.initials: A
authors.lastname: Hahn
authors.forename: Olav
authors.initials: O
authors.lastname: Jansen
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D002648:Child; D003401:Creatine / Q000378:metabolism; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000378:metabolism*; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male
chemical_list: D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D003401:Creatine