Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study

Area of Science:

• Neurocutaneous disorders
• Genetics
• Epileptology

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder.
• It presents with diverse clinical manifestations.
• Epilepsy is a common comorbidity.

Purpose of the Study:

• To review the clinical presentation of TSC.
• To investigate the association between TSC and epilepsy.
• Focus on the Saudi population.

Main Methods:

• Retrospective chart review of 88 TSC patients.
• Analysis of clinical manifestations and epilepsy association.
• Genetic testing for TSC1 and TSC2 mutations in a subset of patients.

Main Results:

• Initial symptoms often include seizures (68.2%), skin issues (46.6%), and developmental delay (23.9%).
• Epilepsy affects 65.9% of patients, with varied seizure types.
• TSC2 mutations (65.9%) are more frequent than TSC1 mutations (29.5%).

Conclusions:

• Central nervous system (epilepsy) and dermatological manifestations are most common in TSC.
• Epilepsy is highly prevalent and often presents with multiple seizure types.
• TSC2 mutations are more common than TSC1 mutations in the Saudi population.