CTICasesDiGeorge Syndrome with Absent Thymus and a Cervical Aortic Arch Variant
Imaging findings
In a premature 23-day-old, chest radiograph shows absence of the normal thymic contour with a high-riding contour in the region of the aorta. Non-contrast MR confirms absence of thymic tissue along with a cervical aortic arch variant, with the descending aorta remaining midline rather than crossing over.
Key takeaways
Absence of thymic tissue together with a cervical aortic arch variant is characteristic of DiGeorge syndrome, which results from third and fourth pharyngeal pouch developmental anomalies affecting both thymic and great vessel development.
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