DiGeorge Syndrome

  • Etiology: Small part of chromosome 22 is deleted
  • Imaging: Absent thymus
  • DDX:
  • Complications:
  • Treatment:
  • Clinical: CATCH-22
    — C: Congenital heart disease (particularly conotruncal anomalies)
    — A: Abnormal facies (hypertelorism, low set ears, short philtrum)
    — T: Thymic hypoplasia
    — C: Cleft palate and cellular immune deficiency
    — H: Hypoparathyroidism with hypocalcemia
    — 22: Deletion located on chromosome 22

Radiology Cases of DiGeorge Syndrome

CXR of absent thymus in DiGeorge Syndrome
CXR AP shows a very narrow superior mediastinum while on the lateral view the anterior mediastinum appears empty.

Surgery Cases of DiGeorge Syndrome

Surgery image of DiGeorge syndrome
Surgical image of the anterior mediastinum shows the thymus to be absent.

Gross Pathology Cases of DiGeorge Syndrome

Surgical image of absent thymus in DiGeorge syndrome
Pathologic image shows near-complete absence of the thymus.