[Tuberous sclerosis complex: diagnosis and current treatment].

Area of Science:

• Genetics
• Neurology
• Oncology

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by mutations in TSC1 or TSC2 genes.
• It leads to mTOR pathway overactivation, causing multisystemic manifestations with significant phenotypic variability.
• Neurological features include drug-resistant epilepsy, neuropsychiatric disorders, and subependymal giant cell astrocytomas.

Framework:

• The study focuses on the genetic basis, clinical heterogeneity, and evolving therapeutic strategies for TSC.
• It highlights the impact of TSC on biopsychosocial health and quality of life.

Implementation:

• Recent therapeutic advancements include epilepsy prevention, new antiepileptic drugs (e.g., cannabidiol), mTOR inhibitors, ketogenic diets, and refined epilepsy surgery.
• Subependymal giant cell astrocytomas may be managed with surgery or mTOR inhibitors.

Implications:

• mTOR inhibitors show potential for treating various TSC comorbidities.
• An integrated, multidisciplinary approach is crucial for managing TSC, addressing psychosocial needs, and ensuring seamless transition from pediatric to adult care to enhance patient quality of life.