DiGeorge syndrome with truncus arteriosus: report of one case

DiGeorge syndrome is a rare disorder characterized by a spectrum of thymic and parathyroid gland abnormalities, conotruncal cardiac defects, and typical facial dysmorphism. We report a male infant with partial DiGeorge syndrome characterized by truncus arteriosus, typical facial dysmorphism, hypocalcemia, lymphocytopenia with T-cell deficiency, and chromosome 22q11.2 deletion. Transient lymphocytopenia was noted for 5 days after birth and hypocalcemia was corrected with calcium gluconate administration. Surgical correction of the truncus arteriosus was performed at the age of 3 months. Unfortunately, the patient subsequently had an unwitnessed cardiac arrest, and despite resuscitation, died at the age of 4 months.