Clinical features of 5-year-old girl with 22q11.2 deletion syndrome in a 5-year-old girl. To the 60th anniversary of the first description of DiGeorge syndrome

Abstract

Since the article is devoted to the 60th anniversary of the definition of DiGeorge syndrome, it describes the biographical data of pediatric endocrinologist A.M. DiGeorge, the essential aspects of the syndrome's study, the main clinical presentation and diagnosis.

Aim - to reflect A.M. DiGeorge's important contribution to the current understanding of the syndrome and present a personal clinical observation of a child with 22q11.2 deletion syndrome.

Clinical case. A 5-year-old girl had such clinical symptoms as heart defects – multiple ventricular septal defects (Ø 10 mm perimembranous defect and Ø 2 mm apical muscular defect), secondary atrial septal defect, and high arterial hypertension; thymus aplasia was accompanied by moderate lymphopenia, reduced T-lymphocyte level, and decreased IgG level during the first two years of life (frequent viral respiratory diseases clinically manifested immunodeficiency); craniofacial dysmorphism; low levels of parathyroid hormone with normal levels of calcium in the blood; delayed speech development, dysarthria; cognitive deficit of mild degree. The diagnosis was confirmed by the FISH method. The peculiarities of the child's development and her laboratory and instrumental results are given in the dynamics of five years.

Conclusions. Over the past 60 years, there has been a significant transformation in the understanding of DiGeorge syndrome, which has gone from a congenital endocrine disease and primary immunodeficiency to a chromosomal anomaly (22q11.2 chromosome deletion syndrome) with multiorgan dysfunction. Nowadays, such patients need multidisciplinary and personalized management.

The study was conducted in accordance with the principles of the Helsinki Declaration. Informed consent was obtained from the patients for conducting the study.

The authors declare no conflict of interest.