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DIGEORGE SYNDROME IN INFANTS: A TYPICAL CLINICAL CASE REPORT
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Abstract
DiGeorge syndrome (DGS), also known as 22q11.2 deletion syndrome, is a common genetic disorder with diverse clinical manifestations with the classic triad of congenital heart disease and hypocalcemia due to hypoparathyroidism. and immunodeficiency due to thymus abnormalities. I report a typical case: a newborn, 2 months old, was admitted to the hospital because of fever, rapid breathing, and cyanosis. Tests showed infection, anemia, and hypocalcemia. Echocardiography detected that the child had an abnormal ascending aorta, tetralogy of Fallot, and cleft palate defects; FISH test at the National Children's Hospital detected 22q11.2 deletion - Digeorge syndrome.
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Keywords
DiGeorge syndrome (DGS), congenital heart disease, hypoparathyroidism, hypocalcemia, immunodeficiency, 22q11.2 deletion.
References
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