Neuroradiological and Neurofunctional Examinations for Patients with 22q11.2 Deletion

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.

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.