PMC5457934_01
Chest X-ray findings. The widened superior mediastinum is visible on chest X-ray.
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Chest X-ray showed widening of the mediastinum, suggesting an anterior mediastinal tumor or a thoracic aortic aneurysm (Fig. 1).
Axial views (A and B), multi-planar reconstruction views (C and D), and three-dimensional views (E and F) obtained using contrast-enhanced thoracic computed tomography. A: The aortic arch is right-sided. B: The trachea and esophagus are surrounded by both the descending aorta and Kommerell's diverticulum. An anomalous subaortic left brachiocephalic vein passes anterior to the trachea. C: A sagittal view of the thorax shows that the top of the aortic arch reaches the superior border of the manubrium sterni. D: A coronal view of the thorax shows that the anomalous subaortic left brachiocephalic vein passes under the aortic arch and joins the right brachiocephalic vein. E: An anterior view of the right aortic arch shows the left common carotid artery arising as the first branch of the aorta, followed by the right common carotid and right subclavian artery. F: A posterior view of the right aortic arch shows an aberrant left subclavian artery arising from Kommerell's diverticulum. AA: aortic arch, T: trachea, Es: esophagus, AAo: ascending aorta, DAo: descending aorta, ASLBV: anomalous subaortic left brachiocephalic vein, KD: Kommerell's diverticulum, M: manubrium sterni, RBV: right brachiocephalic vein, SVC: superior vena cava, RSA: right subclavian artery, RCCA: right common carotid artery, LCCA: left common carotid artery, mPA: main pulmonary artery, ALSA: aberrant left subclavian artery
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Kommerell's diverticulum (KD) and an anomalous subaortic left brachiocephalic vein (ASLBV) were also observed (Fig. 2A and C-F). KD had compressed the esophagus and trachea posteriorly (Fig. 2B).
Fluorescence in situ hybridization (FISH). A FISH analysis using a TUPLE1 (22q11.2) probe (red, white arrow) and an ARSA (22q11.3) probe (green, white arrow head) is shown. The ARSA probe was used as a control and shows hybridization signals on chromosome 22. The absence of a red signal (TUPLE1 probe) on one chromosome 22 indicates a hemizygous deletion of a locus at 22q11.2.
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The FISH analysis detected a hemizygous deletion of the chromosome 22q11.2 region (Fig. 3).