Судомний синдром у підлітка як прояв синдрому делеції 22q11.2

Abstract

22q11.2 deletion syndrome (DiGeorge syndrome) is one of the most common chromosomal abnormalities, which is characterized by multiplicity and variability of damage to various organs and systems: cardiovascular, immune, nervous, endocrine, skeletal. Purpose - to increase doctors' awareness regarding the diagnosis of 22q11.2 deletion syndrome in patients with seizure disorder based on a clinical case analysis. Here we report a clinical case of DiGeorge syndrome (22q11.2 deletion syndrome) in a boy with seizures diagnosed at the age of 14 years by genetic testing because of suspected epileptic encephalopathy. Diagnosed hypofunction of the parathyroid gland and hypocalcemia are obviously the cause of seizures and required a change in treatment. Despite the presence of T- and B-lymphopenia, the boy did not have a frequent infectious syndrome. The absence of defining signs of the 22q11.2 deletion syndrome at an early age, namely the absence of data for a congenital heart defect, pronounced facial dysmorphias, frequent infections, did not give an opportunity to suspect this syndrome at an early age. Taking into account the prevalence, multiplicity and variability of the lesion and the varying degree of severity of clinical manifestations in 22q11.2 deletion syndrome, patients with this syndrome can be found in the practice of every doctor. With seizures in combination with developmental disorders, it is necessary to rule out 22q11.2 deletion syndrome at any age. Wider awareness of the dysmorphic and clinical manifestations of this syndrome will allow better diagnosis of this disease, which requires a multidisciplinary approach to management. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors.