Evaluation of Visual Pathways in Children with Neuronal Ceroid Lipofuscinosis: Diffusion Tensor Imaging Findings

Objective: The aim of our study is to evaluate whether there were any diffusion tensor imaging (DTI) parameter changes in the visual pathways in children with neuronal ceroid lipofuscinosis (NCL) for the early detection of visual pathway damage.

Methods: Eight patients diagnosed with NCL and 11 controls were included. The fractional anisotropy (FA), apparent diffusion coefficient (ADC), and radial diffusivity (RD) were measured from the visual pathways on DTI. Values of DTI were compared between healthy volunteers and NCL subjects.

Results: There were statistically significant differences in FA, ADC, and RD values obtained from visual pathways in children with NCL. The FA values measured from the occipital lobe at the level of the calcarine cortex were significantly lower in these subjects. The ADC values obtained from the optic chiasm were significantly increased in children with NCL. Also, we detected significantly increased ADC and RD values obtained from the lateral geniculate nucleus and subcortical white matter of the calcarine cortex in NCL subjects.

Conclusion: Optic pathway damage is a core feature in NCL children and the early detection of visual damage is crucial. Therefore, determining the microstructural diffusion changes by using DTI in visual pathways of NCL subjects may provide useful information to understand the underlying pathophysiology of the visual deterioration in NCL and other neurodegenerative diseases.

Cite this article as: Otcu Temur H, Atasoy B, Yeşil Sayın G, İşcan A, Alkan A. Evaluation of visual pathways in children with neuronal ceroid lipofuscinosis; diffusion tensor imaging findings. Arch Basic Clin Res. 2024;6(3):177-182.