[Clinical and genetic study patients with tuberous sclerosis complex].

Area of Science:

• Genetics
• Neurology
• Dermatology

Background:

• Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease.
• It results from mutations in the TSC1 or TSC2 tumor suppressor genes.

Purpose of the Study:

• To clinically and genetically characterize patients diagnosed with TSC.
• To analyze the relationship between identified mutations and disease severity.

Main Methods:

• A descriptive study of clinical records from 42 pediatric patients with TSC.
• Genetic analysis of TSC1 and TSC2 genes in 21 patients using PCR and sequencing.

Main Results:

• Early onset symptoms (before 6 months) occurred in 61.9% of patients.
• Neurological (epilepsy in 92.9%) and dermatological (hypomelanotic spots in 100%) manifestations were most frequent.
• Two TSC1 and one TSC2 pathogenic mutations were identified; the TSC2 mutation correlated with a more severe phenotype.

Conclusions:

• Neurological and dermatological symptoms are the most common in TSC patients.
• Genetic mutations in TSC1 and TSC2 were identified.
• A TSC2 mutation was associated with a more severe clinical presentation.