DiGeorge Syndrome

  • Etiology: small part of chromosome 22 is deleted
  • Imaging: absent thymus
  • 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 + cellular immune deficiency, H – hypoparathyroidism with hypocalcemia, 22 – deletion located on chromosome 22

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