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 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 1
  • Publication Date: 2003
  • Doi Number: 10.1016/s0730-725x(02)00625-2
  • Journal Name: MAGNETIC RESONANCE IMAGING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.77-80
  • Bezmialem Vakıf University Affiliated: No

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.