PMC6751914_01
Handling timeline of 24-years-old male, presented to our clinic with 6 years history of progressive gait ataxia and jerky movements.
Neurosciences-23-57-g001.jpg
PMC6751914_01_Neurosciences-23-57-g001.jpg
F1
Handling timeline of this case is described in Figure 1.
Color fundus photography image showing 'cherry red spot' appearance due to whitening of the retina in the perifoveal area A) Right eye, B) Left eye
Neurosciences-23-57-g002.jpg
PMC6751914_01_Neurosciences-23-57-g002.jpg
F2
Funduscopic examination disclosed bilateral macular cherry-red spots (Figure 2).
Neuroimaging results A) The patient's brain MRI figures (white arrows show atrophy) with axial T1, T2, FLAIR and midsagittal T1. B) The patient's brain DTI data.
Neurosciences-23-57-g003.jpg
PMC6751914_01_Neurosciences-23-57-g003.jpg
F3
The brain MRI showed mild atrophy (Figure 3A). The DTI data (Figure 3B) were analyzed with DTIStudio, ROIeditor and DiffeoMap programs.
Fractional anisotropy (FA) values for the case and the control subjects.
Neurosciences-23-57-g004.jpg
PMC6751914_01_Neurosciences-23-57-g004.jpg
F4
Diffusion measures for sialidosis type 1 and the control group are shown in Figure 4 and Figure 5. The patient had higher MD values in the cerebellum whereas lower MD values in the remaining regions (Figure 4, 5).
Mean diffusivity (MD) values for the case and the control subjects (mm2/s).
Neurosciences-23-57-g005.jpg
PMC6751914_01_Neurosciences-23-57-g005.jpg
F5
Diffusion measures for sialidosis type 1 and the control group are shown in Figure 4 and Figure 5. The patient had higher MD values in the cerebellum whereas lower MD values in the remaining regions (Figure 4, 5).