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Case Study

Partial DiGeorge Syndrome Presenting with Congenital Heart Disease and Palatal Abnormalities in Children: A Case Report

Shirin Tarafder
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The term complete DiGeorge Syndrome (DGS) is used to describe patients with DGS who are athymic and have no circulating T-cells, this group constitutes less than 1% of all DGS cases. Patients with partial DGS have thymic hypoplasia that is evidenced by the presence of circulating T-cells. The case report is of a 1.3 year (15 months) boy with recurrent upper respiratory tract infections, congenital heart defects, cleft palate and predominant motor delay. The laboratory investigations confirmed the diagnosis as partial DiGeorge syndrome as there was decreased CD3+T-cells and its subsets (CD3+CD4+T-cells and CD3+CD8+T-cells), but not below 50 cells μL1, thymic aplasia, hypoparathyroidism and chromosome 22q11.2 deletion by fluorescence in situ hybridization (FISH) analysis. This case report demonstrates that DiGeorge syndrome should be considered when there is congenital cardiac abnormalities, recurrent infections, developmental delay, hypoparathyroidism and immune deficiencies as the early diagnosis of 22q11.2 DS is critically important to effectively treat this disorder.

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