Di George Syndrome

Di George syndrome (22q11.2 deletion syndrome) is congenital thymic/parathyroid hypoplasia from failure of the 3rd/4th pharyngeal-arch development. Classic features: conotruncal cardiac defect (tetralogy of Fallot, interrupted aortic arch), neonatal hypocalcemic tetany (parathyroid hypoplasia), characteristic facies, and T-cell immunodeficiency (thymic hypoplasia). Immune severity ranges from mild (partial thymic hypoplasia, T-cell numbers improve with age) to severe (complete athymia, mimicking SCID).

Common Symptoms

Neonatal hypocalcemic tetany; congenital heart disease; characteristic facies; recurrent infection; T-cell lymphopenia; developmental delay

Causes and Pathogenesis

22q11.2 microdeletion (TBX1 gene) causes 3rd/4th-arch neural-crest developmental failure, resulting in thymic/parathyroid hypoplasia and cardiac/facial anomalies.

Treatment

Calcium/vitamin D for hypocalcemia; cardiac surgery; thymic tissue transplant for complete athymia; IVIG/antibiotic prophylaxis; developmental support

Preventive Measures

Genetic counseling; avoid live vaccines in severe T-cell deficit; irradiated blood products.

Department to Visit

It is recommended to visit the Pediatric Immunology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.