Tuberous sclerosis. Clinical observation of a 10-year-old girl

Abstract

Aim. Informing readers about the achievements of genetics, molecular biology, as well as the development of non-genetic diagnostic criteria for tuberous sclerosis, which reliably allow for a correct and timely diagnosis. Materials and methods. A retrospective analysis of our own 10-year observation of a girl suff ering from tuberous sclerosis is presented. Anamnestic data, conclusions of laboratory and neuroimaging methods of research, diagnostic criteria from 2012 (TSC Clinical Consensus Conference) were used to confi rm the diagnosis. Results and discussion. The clinical observation conducted represents a case of tuberous sclerosis, a rare genetically determined disease from the group of phacomatoses, observed for 10 years. The diagnosis was facilitated by the presence of speech and psychomotor development delay, pyramidal symptoms, and frequent seizures. The detected mutation in the gene (TSC1 or TSC2) with an autosomal dominant inheritance phenotype without fl uctuations would confi rm the established diagnosis, however, the patient’s mother refused examination. It was necessary to resort to another, no less reliable option to confi rm this diagnosis: the recommendations of the TSC Clinical Consensus Conference 2012 and based on the identifi ed primary (facial angiofi bromas, hypopigmented spots, cortical nodes, brain tubers, subependymal nodes) and secondary (numerous enamel pits in teeth, multiple kidney cysts) clinical signs present in our patient to establish the diagnosis. Conclusions. The presented clinical observation indicates the possibility of diagnosing tuberous sclerosis without genetic testing.