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ID 114871
Title Alternative
Neuroradiological and neurofunctional examinations for the patients with 22q11.2 deletion
Author
Fujii, Emiko The University of Tokushima
Miyazaki, Masahito The University of Tokushima
Keywords
22q11.2 deletion syndrome
epilepsy
brain malformation
polymicrogyria
agyria
1H-MRS
123I-iomazenil SPECT
Content Type
Journal Article
Description
Since neuroradiological features of patients with 22q11.2 deletion syndrome are not well-understood, examinations using functional imaging were performed in this study.
Brain magnetic resonance imaging(MRI) and 1H-magnetic resonance spectroscopy(MRS) were performed using a clinical 3-tesla MR imager in 4 patients with 22q11.2 deletion syndrome (2 boys and 2 girls; 2~6 years.) and 20 age- and sex-matched healthy control subjects. Furthermore, interictal 123I- iomazenil (IMZ) single photon emission computed tomography(SPECT) was examined in two of the four patients.
Among 4 patients with 22q11.2 deletion syndrome, 2 patients showed polymicrogyria and 1 patient showed agyria. Those patients with brain malformations also showed abnormal brain artery and decreased accumulation of IMZ in 123I-IMZ SPECT. Although all 4 patients showed epileptic discharges in electroencephalogram(EEG), one patient with polymicrogyria had no seizure episode. Decreases in γ-aminobutyric acid(GABA) corresponding to the areas of polymicrogyria and/or epileptic discharges in EEG were shown in all patients except for the patient with agyria.
Although consistent evidence was not seen in patients with 22q11.2 deletion syndrome in this study, brain malformations and disturbances of the GABAergic nervous system would be underlying mechanisms of the neurodevelopmental abnormalities in this syndrome.
Journal Title
Neuropediatrics
ISSN
14391899
0174304X
NCID
AA12807891
AA10619868
Publisher
Georg Thieme Verlag
Volume
42
Issue
6
Start Page
215
End Page
221
Published Date
2011-11-30
Remark
This is an Accepted Manuscript of an article published by Thieme Publishing Group in Neuropediatrics on 30 November 2011, available online at https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0031-1295479.
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DOI (Published Version)
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language
eng
TextVersion
Author
departments
University Hospital
Medical Sciences