Tuberous sclerosis complex - review of the clinical - genetic, diagnostic and therapeutic aspects and analysis of a bulgarian pediatric population of 58 children – part I
Keywords:
neurocutaneous syndrome, Tuberous Sclerosis Complex, skin lesions, therapeutically-resistant epilepsy, mental retardation, tumors, TSC1 gene, TSC2 geneAbstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder, characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system.
Patients with tuberous sclerosis complex (TSC) commonly present with significant neurologic deficits, including seizures, autism, and intellectual disability, appearing at different times in life. The disease is caused by the mutation of one of the two tumor suppressor genes, TSC1 or TSC2, leading to impaired mTor kinase pathways and to disorders in cell migration, proliferation and differentiation that underlie tumorigenesis in TSC.
In several large studies, genotype-phenotype correlations have been examined with significant evidence regarding the characteristic clinical manifestation and disease course depending on the mutation in one of the two genes – a significantly more severe phenotype in patients with a TCS2 mutation than those with a mutation in the TSC1 gene.
The aims of this publication is to provide an up-to-date review of the hitherto known clinical-genetic data, as well as to present the Bulgarian experience in 58 children and their families with TSC.
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