title: 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.affiliation: Department of Radiology, Inonu University School of Medicine, Malatya, Turkey. Alpay_Alkan@hotmail.com
authors.forename: Alpay
authors.initials: A
authors.lastname: Alkan
authors.forename: Ramazan
authors.initials: R
authors.lastname: Kutlu
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakinci
authors.forename: Ahmet
authors.initials: A
authors.lastname: Sigirci
authors.forename: Mehmet
authors.initials: M
authors.lastname: Aslan
authors.forename: Kaya
authors.initials: K
authors.lastname: Sarac
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D002794:Choline / Q000378:metabolism; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000175:diagnosis* / Q000503:physiopathology; D003401:Creatine / Q000378:metabolism; D006801:Humans; D007223:Infant; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009186:Myelin Sheath / Q000502:physiology*
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline