Diffusion tensor imaging of Aicardi syndrome

Area of Science:

• Neuroscience
• Developmental Neuroscience
• Medical Imaging

Background:

• Aicardi syndrome is a severe congenital neurodevelopmental disorder.
• It is characterized by cognitive and motor impairments.
• Understanding its neurobiological underpinnings is crucial.

Purpose of the Study:

• To investigate white matter organization in Aicardi syndrome using diffusion tensor imaging (DTI).
• To compare white matter connectivity in Aicardi syndrome with matched controls exhibiting similar anatomical abnormalities.

Main Methods:

• Diffusion tensor imaging (DTI) and whole-brain three-dimensional fiber tractography were employed.
• Major white matter tracts were isolated in two subjects with Aicardi syndrome.
• Two matched control subjects with callosal agenesis and cortical malformations were included for comparison.

Main Results:

• One Aicardi subject showed a near-complete absence of normal corticocortical connectivity.
• The second Aicardi subject had limited recovered corticocortical tracts (cingulum bundles, uncinate fasciculus).
• Subcortical tracts were preserved in Aicardi subjects, while controls showed intact corticocortical and subcortical connectivity.

Conclusions:

• Aicardi syndrome is associated with widespread disruption of corticocortical white matter organization.
• This white matter disruption is a specific feature of Aicardi syndrome.
• The findings differentiate Aicardi syndrome from other neurodevelopmental disorders with similar anatomical manifestations.