Digeorge syndrome presenting with uncommon cardiac anomaly and hepatomegaly

Digeorge syndrome is caused by microdeletion of a large region of chromosome 22q11.2 lead to the abnormal development of the third and fourth pharyngeal pouches. This syndrome is characterized by hypoparathyroidism, cellular immune deficiency secondary to thymic hypoplasia, congenital heart disease and dysmorphic facial features. In this case report, we describe a 4month old boy who presented with respiratory distress due to cardiac anomaly (Large PDA) that was hypocalcemic, thrombocytopenic, lymphopenic and had hepatomegaly and history of seizure in neonatal period.
Because of recurrent opportunistic infection, this infant was suspected of immune deficiency. He died after about 4 month hospitalization due to severe sepsis and multi organ failure feature. Genetic study confirmed chromosomal 22q11.2 deletion and Digeorge syndrome after his death.