title: MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.
abstract: A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis.
authors.affiliation: Centre de Résonance Magnétique en Biologie et Médecine-UMR-CNRS 6612, Marseille, France.
authors.forename: Angèle
authors.initials: A
authors.lastname: Viola
authors.forename: Sylviane
authors.initials: S
authors.lastname: Confort-Gouny
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Ranjeva
authors.forename: Brigitte
authors.initials: B
authors.lastname: Chabrol
authors.forename: Charles
authors.initials: C
authors.lastname: Raybaud
authors.forename: Francisca
authors.initials: F
authors.lastname: Vintila
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Cozzone
mesh_terms: D000217:Acyltransferases / Q000172:deficiency*; D001921:Brain / Q000378:metabolism*; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000175:diagnosis / Q000201:enzymology / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010955:Plasmalogens / Q000096:biosynthesis
chemical_list: D010955:Plasmalogens; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase