1341
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
haven¡¯t 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 weren¡¯t 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.
PARTIAL
DI GEORGE SYNDROME: A CASE REPORT
Kural N1, Yaren H1,
Artan S2, Ilhan H3, Tekin N4