MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata.

نویسندگان

  • Angèle Viola
  • Sylviane Confort-Gouny
  • Jean-Philippe Ranjeva
  • Brigitte Chabrol
  • Charles Raybaud
  • Francisca Vintila
  • Patrick J Cozzone
چکیده

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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عنوان ژورنال:
  • AJNR. American journal of neuroradiology

دوره 23 3  شماره 

صفحات  -

تاریخ انتشار 2002