Tuberous Sclerosis in the Practice of Ultrasound Specialist: a Literature Review with our Own Observations

Abstract

Tuberous sclerosis (TBS) is a genetically determined orphan disease when many benign tumors (hamartomas) are formed in various organs and systems. The complexity of diagnosis is associated with a wide variety of clinical forms of the disease. Despite the benign nature of hamartomas, they cause dysfunction of the body, which leads to disability and a reduction in the life expectancy of patients. The lesions of the brain and heart are most characteristic for the early onset of the disease in infants and neonatal children. The article presents morphological changes in the central nervous system and heart, compares these changes with ultrasound and magnetic resonance imaging data. With the help of two clinical cases, the high sensitivity of neurosonography, as the primary method of examination of the brain, and the possibility of early diagnostics of the tuberous-sclerosis complex are shown. The publication also contains a literature review, clinical and diagnostic criteria of tuberous sclerosis, brief information about pathogenetic treatment in young children and a large number of illustrations.