Document Detail

White-matter disease in 18q deletion (18q-) syndrome: magnetic resonance spectroscopy indicates demyelination or increased myelin turnover rather than dysmyelination.
MedLine Citation:
PMID:  15645149     Owner:  NLM     Status:  MEDLINE    
Proton magnetic resonance spectroscopic data ((1)H-MR spectroscopy) of patients with 18q deletion syndrome have not yet been reported. (1)H-MR spectroscopy, performed in an affected 2-year-old girl with markedly delayed neuromotor development and typical supratentorial white-matter disease (WMD), showed an increase of choline and alpha-glutamate concentrations. Eight months later, simultaneously with clinical improvement, alpha-glutamate had normalised whereas choline remained slightly increased. Active demyelination or increased myelin turnover might contribute to the hitherto unexplained WMD of this rare disorder.
M Häusler; D Anhuf; H Schüler; V T Ramaekers; A Thron; K Zerres; W Möller-Hartmann
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2005-01-11
Journal Detail:
Title:  Neuroradiology     Volume:  47     ISSN:  0028-3940     ISO Abbreviation:  Neuroradiology     Publication Date:  2005 Jan 
Date Detail:
Created Date:  2005-02-08     Completed Date:  2005-05-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  1302751     Medline TA:  Neuroradiology     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  83-6     Citation Subset:  IM    
Department of Pediatrics, University Hospital of Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.
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MeSH Terms
Aspartic Acid / analogs & derivatives*,  analysis
Brain Diseases / metabolism*
Choline / analysis
Chromosome Deletion*
Chromosomes, Human, Pair 18 / genetics*
Demyelinating Diseases / diagnosis*
Follow-Up Studies
Glutamic Acid / analysis
Inositol / analysis
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy / diagnostic use*
Myelin Sheath / metabolism*
Reg. No./Substance:
56-84-8/Aspartic Acid; 56-86-0/Glutamic Acid; 62-49-7/Choline; 6917-35-7/Inositol; 997-55-7/N-acetylaspartate

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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