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PARTIAL DI GEORGE SYNDROME: A CASE REPORT

Kural N1, Yaren H1, Artan S2, Ilhan H3, Tekin N4

Department of Pediatric Nephrology1, Genetics2, Pediatric Surgery3 and Neonatology4, Osmangazi Faculty of Medicine, Eskisehir, Turkey 

 

Di George syndrome presented a variable combination of hypoparatyhroidism, congenital conotruncal heart defect, facial dysmorphism and thymus hypoplasia. Because of all patients havent fulfilled criteria, most patients were diagnosed as partial Di George syndrome. Genetic evaluation demonstrated deletion in chromosome 22q11. We present 8-month-old boy who admitted to our new-born unit with seizures due to hypocalcaemia of 15th day of life. Physical and laboratory examinations revealed as micrognathia and hypoparathyroidism. Cardiac and thymic anomaly werent detected. Immunologic evaluation for the function of the T lymphocytes and subsets were normal. He had left renal agenesis and vesicoureteral reflux (VUR) at the right. Deletion in chromosome 22q11 was demonstrated. In this report we present partial Di George syndrome in new-born period who was admitted with seizures, had renal agenesis and VUR.