Di George syndrome: early diagnosis in pediatric practice

Abstract

Background. Di Giorgi syndrome is grouped under the term chromosome 22q11.2 deletion syndrome (22q11.2DS). It refers to combined primary immunodeficiencies with syndromal manifestations. The phenotype of 22q11.2DS is unusually variable, even among relatives. The symptoms of 22q11.2DS can vary in both severity and type. Some features may be identified at birth, such as cleft palate or congenital heart defect, while others are diagnosed in older children. The article presents data from the current literature, our own data, and a description of our clinical observation of an 8-year-old child with 22q11.2DS.Objective. The aim of the study is to analyze the clinical features of children with 22q11.2DS on the basis of the parents' database.Materials and methods. We analyzed a database of 135 children with 22q11.2DS maintained by parents of patients living in the Russian Federation. Mathematical processing of the data was performed in Microsoft Office Excel tables.Results. In analyzing the clinical features in children with 22q11.2DS, we found that congenital heart malformations and anomalies were the most common (81%), of which conotruncal malformations accounted for the majority (57%), as well as congenital malformations of other organs and systems (33%), gait disorders (21%), thymus hypo-/aplasia (18%), hernias (17%), ophthalmologic pathology (14%), hearing loss (6%), and dental enamel hypoplasia (3.7%). Among other congenital malformations and anomalies, bone (37%), genitourinary (24%), and gastrointestinal (17%) malformations were the most common. There was a high incidence of cleft palate (74%) among bone malformations. Children with 22q11.2DS have a high incidence of ophthalmologic pathology: astigmatism (50%), retinal angiopathy (20%), iris coloboma (5%), and strabismus (15%).Conclusion. The analysis of the questionnaire database allowed us to identify the main and additional diagnostically significant symptoms of 22q11.2DS, which should be paid attention to during the initial examination of any patient with suspected immunodeficiency. Special diagnostic attention should be paid to immunodeficient children born before 2023. Due to the fact that an increasing number of patients with 22q11.2DS survive to adulthood, the development of algorithms for the prognosis of this disease is important.

Keywords

• children
• primary immunodeficiencies
• di george syndrome
• trec-krec