A case of tuberous sclerosis complex revealed by epilepsy

Area of Science:

• Genetics
• Neurology
• Nephrology

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder.
• TSC is characterized by hamartomas affecting multiple organs, presenting a wide phenotypic spectrum.
• Early screening and rigorous monitoring are crucial due to variable clinical manifestations.

Observation:

• A 22-year-old female presented with adult-onset epileptic seizures.
• Magnetic resonance imaging revealed subependymal hamartomas, cortical tubers, and radial migration bands.
• The patient also had polycystic kidney disease.

Findings:

• The diagnosis of TSC was established based on the co-occurrence of neurological and renal lesions.
• These findings represent major and minor criteria for TSC diagnosis.
• This case illustrates a less common presentation of TSC with adult-onset epilepsy.

Implications:

• Highlights the importance of considering TSC in adult-onset epilepsy, especially with co-occurring systemic manifestations.
• Underscores the need for comprehensive diagnostic criteria and lifelong patient monitoring.
• Emphasizes the variability in TSC presentation and the potential for late-onset neurological symptoms.