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 …