Science & Healthcare

Relevance: Tuberous sclerosis – a genetic disease with autosomal dominant inheritance pattern with the characteristic of damage of the nervous system, skin and existence of benign tumors (hamartomas) clinical picture. The most frequent manifestation of the disease is epilepsy debuting in the first month of life, which find in 96% of patients. Prevalence, severity of epilepsy associated with tuberous sclerosis, as well as resistance in ongoing therapy and a small number of articles on this issue implies studying of treatment in greater depth and defines the relevance of our literature review.

Aim: to carry out the literary review on treatment of epilepsy associated with tuberous sclerosis in children.

Search strategy:: scientific search was conducted in PubMed, Elibrary, Google Scholar databases. Search depth accounts for 12 years. Key words: tuberous sclerosis, epilepsy, treatment. Inclusion criteria: sources from 2007-2018, full-text publications, the age of a research participant is under 18 years old, having convulsive syndrome in the debut of tuberous sclerosis, the diagnosis of Tuberous sclerosis is consistent with international criteria and Clinical Protocols of the Republic of Kazakhstan. Exclusion criteria were: abstracts that do not have a full-text article, duplicate publications, articles on tuberous sclerosis, but do not reveal the treatment of epilepsy in this disease and, therefore, are not appropriate in subject, as well as experimental work on animals.

Due to the fact that tuberous sclerosis is a rare disease, 523 articles were found in the databases we used. However, only 10 sources on this topic met the inclusion criteria.

Results: the prospective and retrospective studies of the effective application of Vigabatrin (4-amino-5-hexenoic acid, France, Sanofi) for infantile spasms and focal epilepsy treatment were found during the literature search. The randomized, placebo-controlled researches of effective targeted therapy with Everolimus (Novartis Pharma, Switzerland) for epilepsy associated with subependymal giant cell astrocytomas in tuberous sclerosis were found. Surgical treatment of pharmacoresistant epilepsy in children with tuberous sclerosis presented in 4 studies.

Conclusion: according to the results of the conducted literature review, vigabatrin is more effective for treatment of infantile spasms and focal epilepsy in children with tuberous sclerosis and everolimus is more preferable for treatment of epilepsy associated with subependymal giant cell astrocytomas in tuberous sclerosis. For pharmacoresistant epilepsy surgical treatment is applied at this disease.