PMC10034305_01
Patient's appearance with setting sun eyes, macrocephaly, and symmetrical
face.
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Face was symmetric with no facial dysmorphic features (Figure 1).
Flash visual evoked potential revealed bilateral abnormal P100 latencies and
no obvious waves in the both eyes.
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The FVEP revealed bilateral abnormal P100 latencies and no obvious waves in the both eyes, demonstrating that our patient was totally blind (Figure 2).
Magnetic resonance imaging showing diffuse white matter T2 hyper-intensity in
brain and brain stem (black arrows).
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MRI reported diffuse white matter T2 hyper-intensity and T1 hypo-intensity in the periventricular, juxtacortical, and subcortical white matter with posterior brain stem, putamen, bilateral thalami, and cerebellum white matter involvement. Moreover, prominent Virchow-Robin Spaces (VRS) were seen (Figure 3).
Electroencephalography demonstrated diffuse slow and sharp (black arrows)
waves.
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EEG demonstrated diffuse slow and sharp waves (Figure 4).