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American Journal of Neuroradiology 23:480-483, March 2002
© 2002 American Society of Neuroradiology

PEDIATRICS

MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata

Angèle Violaa, Sylviane Confort-Gounya, Jean-Philippe Ranjevaa, Brigitte Chabrolb, Charles Raybaudc, Francisca Vintilab and Patrick J. Cozzonea

a Centre de Résonance Magnétique en Biologie et Médecine-UMR-CNRS 6612, Marseille, France
b Faculté de Médecine, Service de Neuropédiatrie, Hôpital la Timone, Marseille, France
c Service de Neuroradiologie, Hôpital la Timone, Marseille, France

Address reprint requests to P. J. Cozzone, Centre de Résonance Magnétique en Biologie et Médecine-UMR-CNRS 6612, Faculté de Médecine la Timone, 27, bvd Jean Moulin, 13010 Marseille, France

Summary: 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.




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