MR spectroscopy in 18q- syndrome suggesting other than hypomyelination

Abstract We reported a 5-year-old boy with 18q- syndrome who showed typical magnetic resonance imaging (MRI) findings of high signal intensity on T2-weighted imaging, and a slightly high but lower than normal signal on T1-weighted imaging of the white matter. MR spectroscopy (MRS) revealed increased...

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Bibliographic Details
Published inBrain & development (Tokyo. 1979) Vol. 36; no. 1; pp. 57 - 60
Main Authors Tada, Hiroko, Takanashi, Jun-ichi
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier B.V 01.01.2014
Subjects
18q- syndrome
Aspartic Acid - analogs & derivatives
Brain - metabolism
Brain - pathology
Child, Preschool
Choline - metabolism
Chromosome Deletion
Chromosome Disorders - diagnosis
Chromosome Disorders - metabolism
Chromosomes, Human, Pair 18 - metabolism
Creatine
Gliosis
Humans
Hypomyelination
Inositol
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy
Male
MBP gene
MR spectroscopy
Nerve Fibers, Myelinated - pathology
Neurology
18q - syndrome
Gliosis
Hypomyelination
MBP gene
MR spectroscopy
18q- syndrome
18q(-) syndrome
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Summary:Abstract We reported a 5-year-old boy with 18q- syndrome who showed typical magnetic resonance imaging (MRI) findings of high signal intensity on T2-weighted imaging, and a slightly high but lower than normal signal on T1-weighted imaging of the white matter. MR spectroscopy (MRS) revealed increased concentrations of creatine, myoinositol and choline with a normal N -acetylaspartate one. The cerebral white matter lesions observed on MRI in patients with 18q- syndrome have been considered to reflect hypomyelination due to a decrease in myelin basic protein so far, however, MRS suggested reactive astrocytic gliosis and accelerated myelin turnover, which are compatible with recent pathological reports of 18q- syndrome.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2012.12.003