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

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. 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.

• Authors: Alpay Alkan, Ramazan Kutlu, Cengiz Yakinci, Ahmet Sigirci, Mehmet Aslan, Kaya Sarac
• Journal: Magnetic resonance imaging (Magn Reson Imaging) Vol. 21 Issue 1 Pg. 77-80 (Jan 2003) ISSN: 0730-725X [Print] Netherlands
• PMID: 12620550 (Publication Type: Case Reports, Journal Article)

Chemical References

• Aspartic Acid
• N-acetylaspartate
• Creatine
• Choline

Topics

• Aspartic Acid (analogs & derivatives, metabolism)
• Choline (metabolism)
• Chondrodysplasia Punctata, Rhizomelic (diagnosis, physiopathology)
• Creatine (metabolism)
• Humans
• Infant
• Magnetic Resonance Spectroscopy
• Male
• Myelin Sheath (physiology)