RT Journal Article
SR Electronic
T1 MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 480
OP 483
VO 23
IS 3
A1 Viola, Angèle
A1 Confort-Gouny, Sylviane
A1 Ranjeva, Jean-Philippe
A1 Chabrol, Brigitte
A1 Raybaud, Charles
A1 Vintila, Francisca
A1 Cozzone, Patrick J.
YR 2002
UL http://www.ajnr.org/content/23/3/480.abstract
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.