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AJNR Am J Neuroradiol. 2002 Mar;23(3):480-3.

MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.

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Centre de Résonance Magnétique en Biologie et Médecine-UMR-CNRS 6612, Marseille, France.


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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