title: In vivo brain proton MR spectroscopy in a case of molybdenum cofactor deficiency.
abstract: A 20-day-old infant with molybdenum cofactor deficiency, a rare encephalopathy, was investigated using cerebral MRI and proton MR spectroscopy. Images demonstrated extensive white-matter destruction with large cavities. The short-echo-time MR spectrum acquired in the parieto-occipital area was characterised by global loss of signal and accumulation of lactate. No additional signal in relation to the pathophysiology of the disease was detected. The brain metabolic abnormalities observed in this patient may reflect destruction of white matter and the presence of large cavities.
authors.affiliation: Centre de Résonance Magnétique Biologique et Médicale (CRMBM), UMR CNRS 6612, Faculté de Médecine, 27 Bd J. Moulin, F-13 005 Marseille, France.
authors.forename: A M
authors.initials: AM
authors.lastname: Salvan
authors.forename: B
authors.initials: B
authors.lastname: Chabrol
authors.forename: S
authors.initials: S
authors.lastname: Lamoureux
authors.forename: S
authors.initials: S
authors.lastname: Confort-Gouny
authors.forename: P J
authors.initials: PJ
authors.lastname: Cozzone
authors.forename: J
authors.initials: J
authors.lastname: Vion-Dury
mesh_terms: D001921:Brain / Q000378:metabolism*; D001928:Brain Diseases, Metabolic / Q000378:metabolism* / Q000473:pathology; D003067:Coenzymes; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008667:Metalloproteins / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D011621:Pteridines / Q000378:metabolism*
chemical_list: D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin