Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings


Alkan A. , KUTLU R., YAKINCI C., SIGIRCI A., ASLAN M., SARAC K.

MAGNETIC RESONANCE IMAGING, vol.21, no.1, pp.77-80, 2003 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 1
  • Publication Date: 2003
  • Doi Number: 10.1016/s0730-725x(02)00625-2
  • Title of Journal : MAGNETIC RESONANCE IMAGING
  • Page Numbers: pp.77-80

Abstract

Rhizomelic chondrodysplasia punctata is a member of genetic peroxisomal disorders. Delayed myelination, which is probably related to the inadequacy of plasmalogens biosynthesis, is an important feature of this disorder. Direct assessment of neuropathologic aspects of RCDP syndrome such as neuronal degeneration and delayed myelination is possible with MR spectroscopy.