DiGeorge syndrome (DGS) which is also known as velocardiofacial syndrome is caused by a submicroscopic chromosome deletion of band 22q11. It is associated with a disturbed development of the pharyngeal arches. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, recurrent respiratory infections and developmental defi ciency. Defi nitive diagnosis is made by Fluorescence In Situ Hybridization analysis (FISH). Children underwent surgical correction of congenital heart defects. During surgery thymic aplasia was confi rmed in both children, postoperative course proceeded without major complications. Our report suggests that the criteria in searching for microdeletion 22q11.2 should be expanded and applied in patients with conotruncal and non-conotruncal congenital heart defects and at least one typical feature of this syndrome.
Introduction: Transcatheter closure is a treatment choice for the most children with patent ductus arteriosus (PDA)� The closure of the ductus is indicated in any child or adolescent with developed symptoms of significant L-R shunt� The aim of this article is to present our results in 5 years treatment of patients with PDA and their outcome�
Common variable immunodeficiency (CVID) or acquired hypogammaglobulinemia is the type of primary immunodeficiency. Deregulation of the immune system, leading to hypogammaglobulinemia, defective activation and proliferation of T cells and dendritic cells, and malfunction of the cytokines are observed in CVID. The clinical picture of CVID varies, any organ or system can be affected, therefore the diagnosis is often difficult and delayed and sometimes is not always possible. This article describes a twelve years old boy with all the clinical signs of immunodeficiency, as confi rmed by laboratory. The main treatment consists of life-long immunoglobulin substitution in intravenous or subcutaneous form.
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