THE CLINICAL CASE REPORT OF DI GIORGI SYNDROME IN TWINS

Abstract

The article presents a clinical case of two girls from twins with Di George syndrome. Di George syndrome is clinically associated as a primary immunodeficiency with a defect in the T-cell immunity and is manifested by a combination of congenital heart defects, thymus and parathyroid glands hypo- or aplasia, malformations of the facial part of the skull, physical development retardation, cognitive and mental disorders. The causative factor of Di George syndrome is a deletion of the central portion of the long arm of 22 chromosome. Using the molecular genetic method (FISH method) of the study, it is possible to verify a submicroscopic deletion of 22q11.2. Di George syndrome is characterized by the polymorphism of clinical signs and the degree of their manifestation.The described clinical case demonstrates the establishment of a preliminary diagnosis of Di George syndrome as a diagnostic intraoperation finding (thymus aplasia) at the time of correction of congenital heart defect (transposition of great arteries with ventricular septum defect; additional muscle defect in the ventricular septum; open oval window; open arterial duct) in the second girl which was provided in the State Institution «Scientific and Practical Medical Center of Pediatric Cardiology and Cardiac Surgery», Kiev. Because of established aplasia of the thymus in the second girl, the first twin child was sent for additional examination, since her condition after birth was satisfactory and she did not need medical supervision before. Both children were examined at the medical and genetic center of the National Children's Specialized Hospital «OKHMATDET» in Kiev. Using the FISH-method, the diagnosis of Di Georgi syndrome was confirmed by detecting microdeletion of the critical locus (22q11.2) of the 22 chromosome in both twins. The final diagnosis of Di George syndrome was made by geneticist due to presence in children of typical clinical signs (congenital heart defect, thymus aplasia, facial dimorphism) and the results of laboratory and instrumental examination (immunogram, echocardiography, karyotyping, FISH-method).Conclusions. Because of polymorphism of clinical signs of Di George syndrome, it is necessary to describe cases of it as often as possible in the literature with the aim of disseminating information and increasing the alertness of doctors of various specialties regarding the probable diagnosis. Early diagnosis of Di George syndrome provides an opportunity for timely treatment. The prognosis of life for both children depends on the possible support of the normal immune response of the body, in addition, for such children, it is necessary to develop personalized vaccination, diagnostic and treatment regimens. In the future, it is necessary to create favorable conditions for the psycho-social adaptation of this children.