CLINICAL CASE OF FAMILIAL TUBEROUS SCLEROSIS

Abstract

Relevance. Tuberous sclerosis is a genetic disease with an autosomal dominant type of inheritance, characterized by the presence of benign tumors in various organs, a progressive course leading to disability and a decrease in life expectancy.
 Clinical case. The pregnant's MRI of the brain revealed the presence of tubercles in the area of the cerebral cortex. At the time of 34 weeks of pregnancy, the presence of endocardial nodular formations in the fetus was revealed prenatally. MRI of the fetal brain showed the presence of a subependimal node in the area of the basal nuclei on the left. Postnatally: MRI-picture of multiple cortical-subcortical tubers, subependimal nodes, ECHO-CG-picture of multiple formations in the cavities of the heart. DNA diagnostics: the extended deletion of the TSC2 gene was determined.
 Discussion. During ultrasound of the 3rd screening of the fetus, large endocardium formations were found, which made it possible to suspect tuberous sclerosis. During the examination of the newborn, the diagnostic assumptions identified prenatally were confirmed. Since tuberous sclerosis has an autosomal dominant type of inheritance, it can be assumed that the pregnant has a high probability of having the same diagnosis.
 Conclusion. An integrated approach to the diagnosis of this disease allows you to pay attention to the patient in a timely manner and choose the appropriate treatment tactics.