White matter disruption is associated with persistent seizures in tuberous sclerosis complex

Area of Science:

• Neuroimaging
• Neurology
• Pediatrics

Background:

• White matter alterations are common in tuberous sclerosis complex (TSC), often correlating with neurological severity.
• The relationship between white matter changes and epilepsy in TSC remains poorly understood.

Purpose of the Study:

• To investigate the impact of early-onset and refractory seizures on white matter integrity in children with TSC.
• To utilize diffusion tensor imaging (DTI) to assess white matter abnormalities in relation to seizure status.

Main Methods:

• Twenty children with TSC and epilepsy onset within the first three years of life were recruited.
• Patients were categorized based on persistent seizures versus seizure freedom.
• Brain MRI with DTI was performed, with fractional anisotropy (FA) and apparent diffusion coefficient (ADC) calculated in specific regions of interest (ROIs).

Main Results:

• Children with persistent seizures exhibited reduced fractional anisotropy (FA) across multiple white matter tracts.
• Statistically significant FA reductions were observed in the cingulum, cerebral peduncles, cerebellar peduncles, internal capsule, external capsule, inferior frontooccipital fasciculus, and temporal trunk.

Conclusions:

• Persistent seizures in TSC are associated with more pronounced white matter connectivity alterations.
• These alterations affect brain regions critical for cognitive maturation, executive functions, and verbal abilities.
• This suggests an increased risk of cognitive impairment, ADHD, and autism in children with TSC and persistent seizures.