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.

journal_name

Magn Reson Imaging

authors

Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac K

doi

10.1016/s0730-725x(02)00625-2

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

77-80

issue

1

eissn

0730-725X

issn

1873-5894

pii

S0730725X02006252

journal_volume

21

pub_type

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