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, cilt.21, sa.1, ss.77-80, 2003 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 1
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1016/s0730-725x(02)00625-2
  • Dergi Adı: MAGNETIC RESONANCE IMAGING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.77-80
  • İnönü Üniversitesi Adresli: Evet

Özet

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.