A CLINICAL CASE OF CONGENITAL TUBEROUS SCLEROSIS IN A NEWBORN

Tuberous sclerosis (TS) is a genetically determined orphan disease that has a progressive course and leads to irreversible morphological changes in various organs and systems due to the formation of multiple benign tumors (hamartomas). Despite the fact that hamartomas are of a benign nature, gradually increasing in size, they disrupt the functions of organs, which leads to the development of life-threatening conditions, disability and shortening of life. For newborns and infants, lesions of the brain and heart are most characteristic.

The frequency of tuberous sclerosis among newborns varies from 1:6,000 to 1:10,000 and is inherited in an autosomal dominant manner. The polysystemic nature of disorders suggests a diverse clinical picture of TS, which varies significantly depending on the age at the onset of the onset, severity, and rate of progression. Currently, in the TS clinic, the main (large, primary) and additional (small, secondary) signs are distinguished. The main signs include convulsive paroxysms, damage to the skin, impaired intelligence, the presence of tumor-like formations in various organs.

This article presents a clinical case of tuberous sclerosis in a newborn, the data of his anamnesis, diagnosis, clinic and outcome. This clinical case of tuberous sclerosis allows us to focus the attention of ultrasound diagnosticians, pediatricians, neonatologists, resuscitators of neonatal intensive care unit on the features of diagnosis, clinic, and treatment of this pathology.

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