Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings
Küçük Resim Yok
Tarih
2003
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Science Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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. In this report, MR spectroscopy findings (decreased Cho/Cr and increased Ins-Gly/Cr ratios and increased levels of mobile lipids) of a rhizomelic chondrodysplasia punctata case supporting delayed myelination are presented. This is the second report of MR spectroscopy examination of the specific brain metabolic changes associated with rhizomelic chondrodysplasia punctata. (C) 2003 Elsevier Science Inc. All rights reserved.
Açıklama
Anahtar Kelimeler
rhizomelic chondrodysplasia punctata, MR spectroscopy
Kaynak
Magnetic Resonance Imaging
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
21
Sayı
1
