[Di George syndrome].
Two patients with Di George syndrome are presented. Diagnosis was done at ages 4 months and 16 days respectively. Their main clinical symptoms were hypocalcemic convulsions, unusual facies (hyperthelorism, low set prominent ears, micrognathia, short philtrum) and cardiac malformations (vascular ring with right aortic arc, aberrant left innominated artery and ligamentum arteriosus in one of them and Tetralogy of Fallot with pulmonary valve atresia in the other). The first patient is now a 3.5 year old boy, his vascular ring was repaired and he has hypoparathyroidism but no clinical nor laboratory evidence of cellular immunodeficiency. The other patient had evidence of heart failure at her second week of life, she died at age sixteen days and, at necropsy, Fallot's tetralogy with pulmonary valve atresia, closed ductus arteriosus, histologically normal ectopic thymus and absent parathyroid glands were demonstrated. We postulate that these cases correspond to partial forms of Di George syndrome.
Urrejola
P
P
Departamento de Pediatría, Escuela de Medicina, Universidad Católica de Chile.
Cattani
A
A
Heusser
F
F
Talesnik
E
E
D000911:Antibodies, Monoclonal / Q000276:immunology; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis* / Q000276:immunology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007136:Immunoglobulins / Q000097:blood; D007231:Infant, Newborn; D008297:Male; D013771:Tetralogy of Fallot / Q000150:complications
D000911:Antibodies, Monoclonal; D007136:Immunoglobulins
Síndrome de Di George.