PT  - JOURNAL ARTICLE
AU  - Viola, Angèle
AU  - Confort-Gouny, Sylviane
AU  - Ranjeva, Jean-Philippe
AU  - Chabrol, Brigitte
AU  - Raybaud, Charles
AU  - Vintila, Francisca
AU  - Cozzone, Patrick J.
TI  - MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata
DP  - 2002 Mar 01
TA  - American Journal of Neuroradiology
PG  - 480--483
VI  - 23
IP  - 3
4099  - http://www.ajnr.org/content/23/3/480.short
4100  - http://www.ajnr.org/content/23/3/480.full
SO  - Am. J. Neuroradiol.2002 Mar 01; 23
AB  - 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.